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?   SV2C_chr5_76078383_76338956  SV2C_chr5_76078383_76338956 (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 22987
ensemblid ENSG00000122012.14
hgncid 30670
symbol SV2C
name synaptic vesicle glycoprotein 2C
refseq_nuc NM_014979.4
refseq_prot NP_055794.3
ensembl_nuc ENST00000502798.7
ensembl_prot ENSP00000423541.2
mane_status MANE Select
chr chr5
start 76083383
end 76333956
strand +
ver v1.2
region chr5:76083383-76333956
region5000 chr5:76078383-76338956
regionname0 SV2C_chr5_76083383_76333956
regionname5000 SV2C_chr5_76078383_76338956

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/0 727 170 60 32 50 6 21 40 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002 0/0 727 31 16 3 12 0 0 9 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003 0/1 727 28 11 7 8 1 0 7 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0004 0/0 727 2 0 2 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0005 0/0 727 1 1 0 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0006 0/0 727 1 0 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0007 0/0 727 1 0 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956

chapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/0 2184 103 39 15 35 2 11 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
c0002 0/0 2184 57 15 15 13 4 10 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
c0003 0/0 2184 20 11 2 7 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
c0004 0/0 2184 19 10 4 5 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
c0005 0/1 2184 9 1 3 3 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
c0006 0/0 2184 7 1 1 5 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
c0007 0/0 2184 5 5 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
c0008 0/0 2184 4 4 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
c0009 0/0 2184 3 0 2 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
c0010 0/0 2184 2 0 2 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
c0011 0/0 2184 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
c0012 0/0 2184 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
c0013 0/0 2184 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
c0014 0/0 2184 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
c0015 0/0 2184 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 8641 9 0 2 5 0 2 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0002 0/0 8640 7 7 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0003 0/0 8641 7 0 2 5 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0004 0/0 8646 6 5 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0005 0/0 8641 5 0 0 3 0 2 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0006 0/0 8641 5 1 2 0 0 2 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0007 0/0 8643 4 4 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0008 0/0 8640 4 0 1 3 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0009 0/0 8623 4 4 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0010 0/0 8641 3 0 2 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0011 0/0 8640 3 1 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0012 0/0 8644 3 2 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0013 0/0 8624 3 3 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0014 0/0 8641 3 0 1 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0015 0/0 8642 3 0 0 1 0 2 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0016 0/0 8642 3 1 1 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0017 0/0 8643 2 1 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0018 0/0 8641 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0019 0/0 8642 2 0 1 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0020 0/0 8641 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0021 0/0 8640 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0022 0/0 8641 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0023 0/0 8642 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0024 0/0 8640 2 1 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0025 0/0 8624 2 2 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0026 0/0 8623 2 2 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0027 0/0 8643 2 0 2 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0028 0/0 8640 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0029 0/0 8640 2 0 1 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0030 0/1 8644 2 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0031 0/0 8640 2 0 1 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0032 0/0 8641 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0033 0/0 8644 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0034 0/0 8644 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0035 0/0 8641 2 0 1 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0036 0/0 8643 2 1 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0037 0/0 8640 2 0 1 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0038 0/0 8644 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0039 0/0 8644 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0040 0/0 8638 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0041 0/0 8641 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0042 0/0 8641 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0043 0/0 8641 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0044 0/0 8645 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0045 0/0 8643 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0046 0/0 8643 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0047 0/0 8640 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0048 0/0 8643 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0049 0/0 8623 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0050 0/0 8623 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0051 0/0 8642 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0052 0/0 8642 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0053 0/0 8640 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0054 0/0 8644 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0055 0/0 8643 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0056 0/0 8644 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0057 0/0 8640 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0058 0/0 8643 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0059 0/0 8645 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0060 0/0 8641 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0061 0/0 8641 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0062 0/0 8640 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0063 0/0 8644 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0064 0/0 8642 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0065 0/0 8641 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0066 0/0 8644 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0067 0/0 8641 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0068 0/0 8641 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0069 0/0 8644 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0070 0/0 8640 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0071 0/0 8639 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0072 0/0 8641 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0073 0/0 8642 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0074 0/0 8638 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0075 0/0 8642 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0076 0/0 8643 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0077 0/0 8640 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0078 0/0 8643 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0079 0/0 8644 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0080 0/0 8644 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0081 0/0 8641 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0082 0/0 8639 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0083 0/0 8640 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0084 0/0 8641 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0085 0/0 8625 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0086 0/0 8643 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0087 0/0 8622 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0088 0/0 8624 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0089 0/0 8624 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0090 0/0 8640 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0091 0/0 8642 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0092 0/0 8644 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0093 0/0 8642 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0094 0/0 8640 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0095 0/0 8646 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0096 0/0 8639 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0097 0/0 8641 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0098 0/0 8640 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0099 0/0 8641 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0100 0/0 8642 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0101 0/0 8643 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0102 0/0 8641 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0103 0/0 8646 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0104 0/0 8640 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0105 0/0 8641 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0106 0/0 8622 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0107 0/0 8623 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0108 0/0 8641 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0109 0/0 8625 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0110 0/0 8639 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0111 0/0 8641 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0112 0/0 8640 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0113 0/0 8644 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0114 0/0 8642 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0115 0/0 8644 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0116 0/0 8645 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0117 0/0 8642 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0118 0/0 8641 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0119 0/0 8644 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0120 0/0 8644 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0121 0/0 8639 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0122 0/0 8639 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0123 0/0 8641 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0124 0/0 8643 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0125 0/0 8645 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0126 0/0 8641 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0127 1/0 8641 1 0 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0128 0/0 8644 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0129 0/0 8646 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0130 0/0 8647 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0131 0/0 8640 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0132 0/0 8624 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0133 0/0 8640 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0134 0/0 8641 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0135 0/0 8643 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0136 0/0 8642 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0137 0/0 8643 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0138 0/0 8641 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0139 0/0 8640 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0140 0/0 8643 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0141 0/0 8646 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0142 0/0 8642 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0143 0/0 8643 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0144 0/0 8644 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0145 0/0 8641 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0146 0/0 8640 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0147 0/0 8625 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0148 0/0 8641 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0149 0/0 8640 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0150 0/0 8640 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0151 0/0 8641 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0152 0/0 8640 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0153 0/0 8641 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0154 0/0 8641 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0155 0/0 8642 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0156 0/0 8643 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
t0157 0/0 8645 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0002 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0003 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0004 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0005 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0006 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0007 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0008 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0009 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0010 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0011 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0012 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0013 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0014 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0015 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0016 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0017 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0018 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0019 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0020 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0021 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0022 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0023 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0024 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0025 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0026 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0027 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0028 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0029 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0030 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0031 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0032 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0033 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0034 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0035 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0036 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0037 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0038 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0039 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0040 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0041 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0042 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0043 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0044 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0045 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0046 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0047 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0048 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0049 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0050 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0051 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0052 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0053 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0054 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0055 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0056 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0057 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0058 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0059 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0060 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0061 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0062 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0063 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0064 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0065 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0066 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0067 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0068 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0069 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0070 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0071 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0072 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0073 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0074 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0075 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0076 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0077 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0078 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0079 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0080 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0081 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0082 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0083 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0084 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0085 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0086 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0087 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0088 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0089 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0090 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0091 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0092 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0093 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0094 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0095 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0096 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0097 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0098 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0099 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0100 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0101 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0102 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0103 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0104 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0105 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0106 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0107 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0108 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0109 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0110 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0111 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0112 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0113 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0114 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0115 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0116 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0117 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0118 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0119 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0120 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0121 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0122 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0123 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0124 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0125 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0126 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0127 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0128 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0129 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0130 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0131 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0132 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0133 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0134 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0135 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0136 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0137 0/1 1 0 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0138 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0139 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0140 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0141 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0142 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0143 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0144 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0145 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0146 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0147 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0148 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0149 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0150 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0151 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0152 1/0 1 0 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0153 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0154 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0155 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0156 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0157 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0158 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0159 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0160 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0161 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0162 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0163 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0164 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0165 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0166 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0167 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0168 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0169 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0170 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0171 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0172 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0173 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0174 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0175 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0176 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0177 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0178 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0179 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0180 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0181 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0182 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0183 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0184 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0185 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0186 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0187 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0188 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0189 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0190 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0191 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0192 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0193 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0194 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0195 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0196 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0197 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0198 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0199 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0200 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0201 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0202 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0203 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0204 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0205 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0206 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0207 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0208 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0209 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0210 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0211 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0212 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0213 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0214 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0215 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0216 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0217 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0218 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0219 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0220 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0221 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0222 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0223 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0224 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0225 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0226 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0227 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0228 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0229 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0230 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0231 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0232 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0233 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
g0234 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956

achapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/0 2184 103 39 15 35 2 11 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002 0/0 2184 57 15 15 13 4 10 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0007 0/0 2184 5 5 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0009 0/0 2184 3 0 2 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0013 0/0 2184 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0015 0/0 2184 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003 0/0 2184 20 11 2 7 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0006 0/0 2184 7 1 1 5 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0008 0/0 2184 4 4 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004 0/0 2184 19 10 4 5 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0005 0/1 2184 9 1 3 3 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0004c0010 0/0 2184 2 0 2 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0005c0011 0/0 2184 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0006c0012 0/0 2184 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0007c0014 0/0 2184 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 10824 8 0 2 4 0 2 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0002 0/0 10823 4 4 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0003 0/0 10824 7 0 2 5 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0004 0/0 10829 3 2 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0005 0/0 10824 3 0 0 2 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0007 0/0 10826 2 2 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0008 0/0 10823 4 0 1 3 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0009 0/0 10806 2 2 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0010 0/0 10824 3 0 2 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0011 0/0 10823 3 1 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0012 0/0 10827 2 2 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0013 0/0 10807 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0017 0/0 10826 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0018 0/0 10824 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0022 0/0 10824 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0023 0/0 10825 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0024 0/0 10823 2 1 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0025 0/0 10807 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0031 0/0 10823 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0032 0/0 10824 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0033 0/0 10827 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0040 0/0 10821 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0041 0/0 10824 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0042 0/0 10824 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0043 0/0 10824 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0046 0/0 10826 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0047 0/0 10823 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0048 0/0 10826 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0050 0/0 10806 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0051 0/0 10825 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0052 0/0 10825 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0053 0/0 10823 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0054 0/0 10827 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0055 0/0 10826 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0056 0/0 10827 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0065 0/0 10824 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0068 0/0 10824 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0070 0/0 10823 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0073 0/0 10825 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0074 0/0 10821 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0075 0/0 10825 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0077 0/0 10823 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0081 0/0 10824 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0082 0/0 10822 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0083 0/0 10823 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0084 0/0 10824 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0088 0/0 10807 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0090 0/0 10823 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0092 0/0 10827 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0117 0/0 10825 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0118 0/0 10824 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0121 0/0 10822 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0122 0/0 10822 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0123 0/0 10824 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0125 0/0 10828 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0126 0/0 10824 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0127 1/0 10824 1 0 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0128 0/0 10827 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0130 0/0 10830 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0131 0/0 10823 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0132 0/0 10807 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0133 0/0 10823 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0135 0/0 10826 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0136 0/0 10825 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0137 0/0 10826 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0138 0/0 10824 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0141 0/0 10829 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0001t0157 0/0 10828 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0006 0/0 10824 5 1 2 0 0 2 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0009 0/0 10806 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0013 0/0 10807 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0014 0/0 10824 2 0 1 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0015 0/0 10825 3 0 0 1 0 2 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0020 0/0 10824 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0025 0/0 10807 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0028 0/0 10823 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0029 0/0 10823 2 0 1 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0035 0/0 10824 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0036 0/0 10826 2 1 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0037 0/0 10823 2 0 1 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0060 0/0 10824 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0064 0/0 10825 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0089 0/0 10807 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0093 0/0 10825 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0096 0/0 10822 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0097 0/0 10824 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0098 0/0 10823 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0099 0/0 10824 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0100 0/0 10825 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0101 0/0 10826 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0102 0/0 10824 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0103 0/0 10829 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0104 0/0 10823 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0105 0/0 10824 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0106 0/0 10805 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0107 0/0 10806 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0108 0/0 10824 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0109 0/0 10808 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0110 0/0 10822 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0111 0/0 10824 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0112 0/0 10823 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0114 0/0 10825 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0142 0/0 10825 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0144 0/0 10827 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0145 0/0 10824 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0146 0/0 10823 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0148 0/0 10824 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0149 0/0 10823 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0150 0/0 10823 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0151 0/0 10824 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0152 0/0 10823 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0153 0/0 10824 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0002t0154 0/0 10824 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0007t0004 0/0 10829 3 3 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0007t0007 0/0 10826 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0007t0078 0/0 10826 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0009t0031 0/0 10823 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0009t0076 0/0 10826 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0009t0134 0/0 10824 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0013t0014 0/0 10824 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0001c0015t0079 0/0 10827 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0001 0/0 10824 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0013 0/0 10807 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0017 0/0 10826 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0021 0/0 10823 2 0 0 2 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0026 0/0 10806 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0033 0/0 10827 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0044 0/0 10828 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0049 0/0 10806 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0059 0/0 10828 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0067 0/0 10824 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0071 0/0 10822 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0072 0/0 10824 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0080 0/0 10827 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0085 0/0 10808 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0086 0/0 10826 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0087 0/0 10805 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0119 0/0 10827 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0124 0/0 10826 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0003t0129 0/0 10829 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0006t0034 0/0 10827 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0006t0061 0/0 10824 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0006t0062 0/0 10823 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0006t0063 0/0 10827 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0006t0094 0/0 10823 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0006t0095 0/0 10829 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0006t0147 0/0 10808 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0008t0002 0/0 10823 3 3 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0002c0008t0007 0/0 10826 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0005 0/0 10824 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0009 0/0 10806 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0012 0/0 10827 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0016 0/0 10825 3 1 1 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0019 0/0 10825 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0026 0/0 10806 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0038 0/0 10827 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0039 0/0 10827 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0045 0/0 10826 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0057 0/0 10823 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0058 0/0 10826 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0066 0/0 10827 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0069 0/0 10827 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0091 0/0 10825 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0120 0/0 10827 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0139 0/0 10823 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0004t0140 0/0 10826 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0005t0019 0/0 10825 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0005t0030 0/1 10827 2 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0005t0034 0/0 10827 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0005t0113 0/0 10827 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0005t0115 0/0 10827 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0005t0116 0/0 10828 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0005t0155 0/0 10825 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0003c0005t0156 0/0 10826 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0004c0010t0027 0/0 10826 2 0 2 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0005c0011t0143 0/0 10826 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0006c0012t0035 0/0 10824 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956
a0007c0014t0005 0/0 10824 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C copy fasta chr5 76078383 76338956

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0027 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0001g0031 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0001g0039 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0001g0054 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0001g0057 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0001g0058 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0001g0059 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0001g0061 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0002g0023 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0002g0024 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0002g0094 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0002g0224 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0003g0096 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0003g0098 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0003g0165 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0003g0167 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0003g0170 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0003g0171 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0003g0185 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0004g0080 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0004g0219 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0004g0229 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0005g0099 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0005g0100 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0005g0162 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0007g0093 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0007g0122 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0008g0104 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0008g0127 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0008g0130 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0008g0217 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0009g0008 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0009g0190 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0010g0032 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0010g0033 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0010g0037 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0011g0040 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0011g0056 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0011g0065 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0012g0083 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0012g0223 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0013g0085 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0017g0034 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0018g0044 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0018g0067 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0022g0108 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0022g0214 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0023g0102 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0023g0131 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0024g0201 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0024g0203 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0025g0231 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0031g0179 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0032g0004 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0032g0160 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0033g0003 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0040g0070 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0041g0036 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0042g0072 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0043g0028 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0046g0050 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0047g0046 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0048g0047 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0050g0041 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0051g0035 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0052g0055 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0053g0045 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0054g0063 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0055g0064 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0056g0069 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0065g0233 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0068g0092 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0070g0227 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0073g0089 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0074g0208 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0075g0115 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0077g0212 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0081g0202 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0082g0220 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0083g0204 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0084g0090 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0088g0123 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0090g0106 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0092g0211 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0117g0012 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0118g0018 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0121g0097 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0122g0011 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0123g0002 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0125g0007 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0126g0172 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0127g0152 1/0 1 0 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0128g0006 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0130g0010 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0131g0181 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0132g0009 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0133g0157 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0135g0198 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0136g0095 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0137g0159 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0138g0150 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0141g0013 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0001t0157g0029 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0006g0156 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0006g0174 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0006g0177 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0006g0192 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0006g0196 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0009g0186 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0013g0082 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0014g0134 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0014g0136 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0015g0121 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0015g0135 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0015g0138 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0020g0042 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0020g0073 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0025g0232 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0028g0128 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0028g0129 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0029g0141 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0029g0146 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0035g0178 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0036g0014 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0036g0176 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0037g0154 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0037g0194 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0060g0052 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0064g0038 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0089g0081 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0093g0205 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0096g0112 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0097g0114 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0098g0113 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0099g0132 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0100g0206 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0101g0144 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0102g0234 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0103g0148 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0104g0020 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0105g0117 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0106g0210 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0107g0207 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0108g0120 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0109g0209 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0110g0124 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0111g0133 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0112g0116 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0114g0125 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0142g0001 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0144g0155 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0145g0189 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0146g0175 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0148g0158 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0149g0019 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0150g0191 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0151g0151 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0152g0199 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0153g0200 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0002t0154g0197 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0007t0004g0075 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0007t0004g0077 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0007t0004g0079 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0007t0007g0078 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0007t0078g0076 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0009t0031g0184 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0009t0076g0213 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0009t0134g0182 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0013t0014g0119 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0001c0015t0079g0087 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0001g0026 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0013g0226 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0017g0030 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0021g0103 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0021g0105 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0026g0230 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0033g0169 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0044g0074 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0049g0025 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0059g0043 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0067g0109 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0071g0228 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0072g0143 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0080g0084 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0085g0215 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0086g0088 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0087g0021 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0119g0187 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0124g0183 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0003t0129g0188 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0006t0034g0168 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0006t0061g0049 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0006t0062g0068 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0006t0063g0053 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0006t0094g0142 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0006t0095g0091 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0006t0147g0195 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0008t0002g0216 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0008t0002g0218 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0008t0002g0221 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0002c0008t0007g0225 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0005g0161 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0009g0017 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0012g0222 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0016g0101 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0016g0164 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0016g0166 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0019g0145 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0026g0147 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0038g0066 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0039g0062 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0045g0048 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0057g0071 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0058g0051 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0066g0086 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0069g0022 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0091g0107 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0120g0005 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0139g0016 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0004t0140g0163 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0005t0019g0060 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0005t0030g0118 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0005t0030g0137 0/1 1 0 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0005t0034g0173 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0005t0113g0140 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0005t0115g0139 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0005t0116g0126 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0005t0155g0149 0/0 1 0 0 1 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0003c0005t0156g0193 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0004c0010t0027g0110 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0004c0010t0027g0111 0/0 1 0 1 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0005c0011t0143g0015 0/0 1 1 0 0 0 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0006c0012t0035g0153 0/0 1 0 0 0 1 0 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
a0007c0014t0005g0180 0/0 1 0 0 0 0 1 SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0001 c0002 t0151 g0151 EUR GBR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00140 hp2 a0001 c0002 t0154 g0197 EUR GBR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00280 hp1 a0003 c0005 t0156 g0193 EUR FIN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00280 hp2 a0001 c0001 t0010 g0037 EUR FIN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00423 hp1 a0001 c0001 t0157 g0029 EAS CHS SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00423 hp2 a0001 c0001 t0032 g0004 EAS CHS SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00558 hp1 a0002 c0006 t0034 g0168 EAS CHS SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00558 hp2 a0001 c0001 t0022 g0108 EAS CHS SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00642 hp1 a0003 c0005 t0115 g0139 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00642 hp2 a0001 c0001 t0004 g0219 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00733 hp1 a0001 c0001 t0008 g0217 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00733 hp2 a0001 c0002 t0036 g0176 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00735 hp1 a0003 c0004 t0091 g0107 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00735 hp2 a0001 c0001 t0048 g0047 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00738 hp1 a0001 c0002 t0006 g0192 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00738 hp2 a0001 c0001 t0010 g0033 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00741 hp1 a0003 c0004 t0016 g0166 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG00741 hp2 a0004 c0010 t0027 g0111 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01074 hp1 a0003 c0005 t0113 g0140 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01074 hp2 a0001 c0001 t0041 g0036 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01106 hp1 a0004 c0010 t0027 g0110 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01106 hp2 a0001 c0002 t0037 g0154 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01109 hp1 a0001 c0001 t0070 g0227 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01109 hp2 a0001 c0002 t0105 g0117 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01168 hp1 a0001 c0002 t0150 g0191 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01168 hp2 a0001 c0002 t0014 g0136 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01243 hp1 a0003 c0004 t0012 g0222 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01243 hp2 a0002 c0003 t0129 g0188 AMR PUR SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01255 hp1 a0001 c0002 t0029 g0141 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01255 hp2 a0001 c0001 t0024 g0203 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01256 hp1 a0001 c0002 t0153 g0200 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01256 hp2 a0001 c0002 t0111 g0133 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01258 hp1 a0001 c0001 t0003 g0170 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01258 hp2 a0001 c0002 t0152 g0199 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01261 hp1 a0001 c0002 t0006 g0174 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01261 hp2 a0001 c0002 t0099 g0132 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01361 hp1 a0001 c0002 t0104 g0020 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01361 hp2 a0001 c0009 t0031 g0184 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01433 hp1 a0002 c0003 t0124 g0183 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01433 hp2 a0001 c0001 t0010 g0032 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01496 hp1 a0002 c0006 t0147 g0195 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01496 hp2 a0003 c0004 t0140 g0163 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01515 hp1 a0006 c0012 t0035 g0153 EUR IBS SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01515 hp2 a0001 c0002 t0037 g0194 EUR IBS SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01884 hp1 a0003 c0004 t0057 g0071 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01884 hp2 a0001 c0001 t0132 g0009 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01891 hp1 a0003 c0004 t0069 g0022 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01891 hp2 a0001 c0002 t0109 g0209 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01928 hp1 a0001 c0001 t0001 g0039 AMR PEL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01928 hp2 a0001 c0009 t0134 g0182 AMR PEL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01943 hp1 a0003 c0005 t0019 g0060 AMR PEL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01943 hp2 a0001 c0001 t0003 g0185 AMR PEL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01981 hp1 a0001 c0001 t0090 g0106 AMR PEL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01981 hp2 a0001 c0001 t0081 g0202 AMR PEL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02015 hp1 a0003 c0005 t0030 g0118 EAS KHV SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02015 hp2 a0002 c0003 t0059 g0043 EAS KHV SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02055 hp1 a0002 c0008 t0002 g0216 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02055 hp2 a0001 c0001 t0141 g0013 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02056 hp1 a0001 c0001 t0018 g0067 EAS KHV SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02056 hp2 a0001 c0002 t0142 g0001 EAS KHV SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02080 hp1 a0002 c0006 t0061 g0049 EAS KHV SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02080 hp2 a0001 c0001 t0001 g0031 EAS KHV SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02083 hp1 a0001 c0001 t0022 g0214 EAS KHV SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02083 hp2 a0001 c0001 t0008 g0127 EAS KHV SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02145 hp1 a0001 c0001 t0130 g0010 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02145 hp2 a0003 c0005 t0116 g0126 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02257 hp1 a0001 c0002 t0006 g0177 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02257 hp2 a0001 c0001 t0009 g0008 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02258 hp1 a0001 c0001 t0046 g0050 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02258 hp2 a0001 c0001 t0117 g0012 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02280 hp1 a0001 c0001 t0024 g0201 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02280 hp2 a0005 c0011 t0143 g0015 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02300 hp1 a0001 c0001 t0137 g0159 AMR PEL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02300 hp2 a0001 c0001 t0001 g0058 AMR PEL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02451 hp1 a0002 c0008 t0007 g0225 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02451 hp2 a0001 c0001 t0088 g0123 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02523 hp1 a0001 c0001 t0077 g0212 EAS KHV SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02523 hp2 a0001 c0001 t0001 g0061 EAS KHV SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02572 hp1 a0003 c0004 t0026 g0147 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02572 hp2 a0001 c0001 t0084 g0090 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02602 hp1 a0001 c0001 t0001 g0059 SAS PJL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02602 hp2 a0001 c0002 t0108 g0120 SAS PJL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02615 hp1 a0002 c0006 t0095 g0091 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02615 hp2 a0001 c0001 t0012 g0083 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02630 hp1 a0001 c0001 t0040 g0070 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02630 hp2 a0001 c0001 t0125 g0007 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02647 hp1 a0001 c0001 t0012 g0223 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02647 hp2 a0002 c0003 t0049 g0025 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02698 hp1 a0001 c0002 t0015 g0135 SAS PJL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02698 hp2 a0001 c0002 t0144 g0155 SAS PJL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02717 hp1 a0002 c0003 t0086 g0088 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02717 hp2 a0001 c0002 t0036 g0014 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02723 hp1 a0001 c0002 t0100 g0206 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02723 hp2 a0001 c0001 t0011 g0040 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02735 hp1 a0001 c0002 t0101 g0144 SAS PJL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02735 hp2 a0001 c0001 t0043 g0028 SAS PJL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02738 hp1 a0001 c0001 t0126 g0172 SAS PJL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02738 hp2 a0001 c0002 t0006 g0196 SAS PJL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02809 hp1 a0001 c0002 t0025 g0232 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02809 hp2 a0001 c0001 t0009 g0190 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02818 hp1 a0001 c0001 t0082 g0220 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02818 hp2 a0001 c0001 t0050 g0041 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02886 hp1 a0001 c0001 t0013 g0085 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02886 hp2 a0001 c0001 t0118 g0018 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02895 hp1 a0001 c0002 t0103 g0148 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02895 hp2 a0003 c0004 t0066 g0086 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02896 hp1 a0002 c0003 t0013 g0226 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02896 hp2 a0001 c0001 t0068 g0092 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02922 hp1 a0001 c0002 t0107 g0207 AFR ESN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02922 hp2 a0002 c0008 t0002 g0218 AFR ESN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02965 hp1 a0001 c0001 t0004 g0080 AFR ESN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02965 hp2 a0001 c0001 t0025 g0231 AFR ESN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02970 hp1 a0001 c0001 t0047 g0046 AFR ESN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02970 hp2 a0002 c0003 t0071 g0228 AFR ESN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02976 hp1 a0002 c0003 t0119 g0187 AFR ESN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02976 hp2 a0002 c0003 t0017 g0030 AFR ESN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03041 hp1 a0001 c0001 t0122 g0011 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03041 hp2 a0001 c0001 t0007 g0093 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03098 hp1 a0001 c0007 t0078 g0076 AFR MSL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03098 hp2 a0001 c0001 t0128 g0006 AFR MSL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03130 hp1 a0003 c0004 t0120 g0005 AFR ESN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03130 hp2 a0001 c0002 t0013 g0082 AFR ESN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03139 hp1 a0001 c0001 t0004 g0229 AFR ESN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03139 hp2 a0001 c0001 t0131 g0181 AFR ESN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03195 hp1 a0001 c0001 t0042 g0072 AFR ESN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03195 hp2 a0001 c0001 t0002 g0094 AFR ESN SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03209 hp1 a0002 c0003 t0085 g0215 AFR MSL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03209 hp2 a0002 c0003 t0080 g0084 AFR MSL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03225 hp1 a0001 c0015 t0079 g0087 AFR MSL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03225 hp2 a0001 c0007 t0007 g0078 AFR MSL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03486 hp1 a0001 c0001 t0065 g0233 AFR MSL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03486 hp2 a0001 c0001 t0083 g0204 AFR MSL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03540 hp1 a0001 c0001 t0074 g0208 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03540 hp2 a0001 c0002 t0149 g0019 AFR GWD SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03704 hp1 a0001 c0001 t0053 g0045 SAS PJL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03704 hp2 a0001 c0001 t0005 g0162 SAS PJL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03834 hp1 a0001 c0002 t0096 g0112 SAS BEB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03834 hp2 a0007 c0014 t0005 g0180 SAS BEB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG04184 hp1 a0001 c0001 t0052 g0055 SAS BEB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG04184 hp2 a0001 c0002 t0006 g0156 SAS BEB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG04199 hp1 a0001 c0001 t0138 g0150 SAS STU SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG04199 hp2 a0001 c0001 t0051 g0035 SAS STU SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG04204 hp1 a0001 c0001 t0133 g0157 SAS STU SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG04204 hp2 a0001 c0002 t0015 g0121 SAS STU SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG04228 hp1 a0001 c0002 t0029 g0146 SAS STU SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG04228 hp2 a0001 c0001 t0001 g0027 SAS STU SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18522 hp1 a0002 c0003 t0026 g0230 AFR YRI SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18522 hp2 a0003 c0004 t0139 g0016 AFR YRI SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18906 hp1 a0001 c0001 t0002 g0024 AFR YRI SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18906 hp2 a0003 c0004 t0039 g0062 AFR YRI SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18945 hp1 a0001 c0001 t0003 g0167 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18945 hp2 a0001 c0002 t0028 g0128 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18951 hp1 a0001 c0001 t0005 g0100 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18951 hp2 a0001 c0001 t0055 g0064 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18952 hp1 a0001 c0001 t0123 g0002 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18952 hp2 a0001 c0002 t0114 g0125 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18954 hp1 a0001 c0001 t0011 g0065 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18954 hp2 a0001 c0002 t0148 g0158 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18960 hp1 a0003 c0004 t0005 g0161 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18960 hp2 a0002 c0006 t0063 g0053 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18966 hp1 a0001 c0001 t0032 g0160 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18966 hp2 a0001 c0002 t0064 g0038 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18968 hp1 a0001 c0001 t0011 g0056 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18968 hp2 a0002 c0003 t0033 g0169 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18975 hp1 a0001 c0001 t0054 g0063 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18975 hp2 a0003 c0005 t0155 g0149 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18981 hp1 a0003 c0004 t0038 g0066 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18981 hp2 a0002 c0003 t0072 g0143 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18990 hp1 a0001 c0002 t0015 g0138 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18990 hp2 a0001 c0001 t0003 g0096 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18992 hp1 a0001 c0001 t0001 g0054 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18992 hp2 a0002 c0006 t0062 g0068 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18998 hp1 a0001 c0001 t0018 g0044 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18998 hp2 a0001 c0013 t0014 g0119 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19001 hp1 a0001 c0001 t0136 g0095 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19001 hp2 a0001 c0001 t0023 g0102 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19005 hp1 a0001 c0001 t0003 g0165 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19005 hp2 a0002 c0003 t0021 g0103 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19007 hp1 a0003 c0004 t0058 g0051 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19007 hp2 a0001 c0001 t0003 g0098 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19011 hp1 a0002 c0003 t0001 g0026 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19011 hp2 a0001 c0001 t0005 g0099 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19030 hp1 a0001 c0001 t0135 g0198 AFR LWK SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19030 hp2 a0001 c0002 t0089 g0081 AFR LWK SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19043 hp1 a0001 c0002 t0093 g0205 AFR LWK SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19043 hp2 a0001 c0007 t0004 g0077 AFR LWK SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19056 hp1 a0001 c0001 t0056 g0069 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19056 hp2 a0001 c0002 t0112 g0116 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19060 hp1 a0001 c0001 t0008 g0130 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19060 hp2 a0001 c0001 t0033 g0003 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19063 hp1 a0001 c0002 t0020 g0073 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19063 hp2 a0001 c0002 t0028 g0129 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19068 hp1 a0001 c0001 t0001 g0057 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19068 hp2 a0001 c0002 t0097 g0114 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19072 hp1 a0003 c0004 t0016 g0101 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19072 hp2 a0001 c0002 t0020 g0042 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19079 hp1 a0002 c0003 t0021 g0105 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19079 hp2 a0001 c0001 t0023 g0131 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19081 hp1 a0001 c0001 t0075 g0115 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19081 hp2 a0003 c0004 t0019 g0145 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19083 hp1 a0001 c0001 t0121 g0097 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19083 hp2 a0001 c0009 t0076 g0213 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19084 hp1 a0001 c0002 t0060 g0052 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19084 hp2 a0002 c0003 t0067 g0109 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19088 hp1 a0001 c0001 t0092 g0211 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19088 hp2 a0001 c0001 t0008 g0104 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19091 hp1 a0003 c0005 t0034 g0173 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19091 hp2 a0001 c0002 t0014 g0134 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19240 hp1 a0003 c0004 t0045 g0048 AFR YRI SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA19240 hp2 a0001 c0007 t0004 g0079 AFR YRI SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA20129 hp1 a0001 c0002 t0110 g0124 AFR ASW SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA20129 hp2 a0003 c0004 t0009 g0017 AFR ASW SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA20805 hp1 a0001 c0002 t0146 g0175 EUR TSI SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA20805 hp2 a0001 c0001 t0017 g0034 EUR TSI SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA20905 hp1 a0001 c0002 t0102 g0234 SAS GIH SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA20905 hp2 a0001 c0001 t0031 g0179 SAS GIH SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01123 hp1 a0001 c0002 t0145 g0189 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG01123 hp2 a0001 c0002 t0035 g0178 AMR CLM SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02109 hp1 a0001 c0001 t0002 g0023 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02109 hp2 a0001 c0002 t0098 g0113 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02486 hp1 a0001 c0007 t0004 g0075 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02486 hp2 a0001 c0001 t0007 g0122 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02559 hp1 a0001 c0001 t0002 g0224 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG02559 hp2 a0002 c0008 t0002 g0221 AFR ACB SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03471 hp1 a0001 c0002 t0106 g0210 AFR MSL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
HG03471 hp2 a0002 c0003 t0087 g0021 AFR MSL SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18955 hp1 a0002 c0006 t0094 g0142 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA18955 hp2 a0001 c0001 t0003 g0171 EAS JPT SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA20300 hp1 a0001 c0002 t0009 g0186 AFR USA SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA20300 hp2 a0003 c0004 t0016 g0164 AFR USA SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA21309 hp1 a0002 c0003 t0044 g0074 AFR LWK SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
NA21309 hp2 a0001 c0001 t0073 g0089 AFR LWK SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
homoSapiens_chm13v2 hp1 a0003 c0005 t0030 g0137 REF REF SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956
homoSapiens_grch38 hp1 a0001 c0001 t0127 g0152 REF REF SV2C_chr5_76078383_76338956 SV2C chr5 76078383 76338956

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
chr5:76132016 A
A
 G
G
 1 a0004
a0004
 2 HG00741.hp2
HG01106.hp1
HG00741.hp2
HG01106.hp1
 missense_variant MODERATE c.266A>G
c.266A>G
 p.Tyr89Cys
p.Tyr89Cys
 SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/13 497/10824 266/2184 89/727 chr5 76132016
chr5:76209887 G
G
 A
A
 1 a0007
a0007
 1 HG03834.hp2
HG03834.hp2
 missense_variant&splice_region_variant MODERATE c.913G>A
c.913G>A
 p.Gly305Arg
p.Gly305Arg
 SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/13 1144/10824 913/2184 305/727 chr5 76209887
chr5:76291315 G
G
 A
A
 1 a0005
a0005
 1 HG02280.hp2
HG02280.hp2
 missense_variant MODERATE c.1232G>A
c.1232G>A
 p.Arg411His
p.Arg411His
 SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 7/13 1463/10824 1232/2184 411/727 chr5 76291315
chr5:76295885 C
C
 G
G
 2 a0002
a0003
a0002
a0003
 59 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(56): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02080.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.1445C>G
c.1445C>G
 p.Thr482Ser
p.Thr482Ser
 SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/13 1676/10824 1445/2184 482/727 chr5 76295885
chr5:76298918 G
G
 A
A
 1 a0003
a0003
 28 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(25): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02572.hp1
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.1627G>A
c.1627G>A
 p.Asp543Asn
p.Asp543Asn
 SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/13 1858/10824 1627/2184 543/727 chr5 76298918
chr5:76300787 C
C
 A
A
 1 a0006
a0006
 1 HG01515.hp1
HG01515.hp1
 missense_variant MODERATE c.1695C>A
c.1695C>A
 p.Asn565Lys
p.Asn565Lys
 SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 11/13 1926/10824 1695/2184 565/727 chr5 76300787
chr5:76333955 C
C
 T
T
 1 a0002
a0002
 1 NA18955.hp1
NA18955.hp1
 splice_region_variant LOW c.*8408C>T
c.*8408C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 chr5 76333955

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
chr5:76132110 G
G
 A
A
 7 a0001c0002
a0001c0007
a0001c0013
others(4): Show 
a0001c0002
a0001c0007
a0001c0013
a0002c0006
a0003c0005
a0005c0011
a0006c0012
 81 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(78): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02486.hp1
HG02602.hp2
HG02615.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03540.hp2
HG03834.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA18998.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.360G>A
c.360G>A
 p.Arg120Arg
p.Arg120Arg
 SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/13 591/10824 360/2184 120/727 chr5 76132110
chr5:76132245 C
C
 T
T
 1 a0001c0007
a0001c0007
 5 HG02486.hp1
HG03098.hp1
HG03225.hp2
others(2): Show 
HG02486.hp1
HG03098.hp1
HG03225.hp2
NA19043.hp2
NA19240.hp2
 synonymous_variant LOW c.495C>T
c.495C>T
 p.Asp165Asp
p.Asp165Asp
 SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/13 726/10824 495/2184 165/727 chr5 76132245
chr5:76194969 C
C
 T
T
 1 a0001c0015
a0001c0015
 1 HG03225.hp1
HG03225.hp1
 synonymous_variant LOW c.631C>T
c.631C>T
 p.Leu211Leu
p.Leu211Leu
 SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/13 862/10824 631/2184 211/727 chr5 76194969
chr5:76285828 C
C
 T
T
 2 a0001c0009
a0001c0013
a0001c0009
a0001c0013
 4 HG01361.hp2
HG01928.hp2
NA18998.hp2
others(1): Show 
HG01361.hp2
HG01928.hp2
NA18998.hp2
NA19083.hp2
 synonymous_variant LOW c.1095C>T
c.1095C>T
 p.Asp365Asp
p.Asp365Asp
 SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/13 1326/10824 1095/2184 365/727 chr5 76285828
chr5:76300793 G
G
 A
A
 1 a0002c0008
a0002c0008
 4 HG02055.hp1
HG02451.hp1
HG02559.hp2
others(1): Show 
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02922.hp2
 synonymous_variant LOW c.1701G>A
c.1701G>A
 p.Thr567Thr
p.Thr567Thr
 SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 11/13 1932/10824 1701/2184 567/727 chr5 76300793

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
chr5:76083386 A
A
 G
G
 1 a0001c0001t0157
a0001c0001t0157
 1 HG00423.hp1
HG00423.hp1
 5_prime_UTR_variant MODIFIER c.-228A>G
c.-228A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/13 48365 chr5 76083386
chr5:76083489 C
C
 A
A
 37 a0001c0001t0001
a0001c0001t0010
a0001c0001t0011
others(34): Show 
a0001c0001t0001
a0001c0001t0010
a0001c0001t0011
a0001c0001t0017
a0001c0001t0018
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0050
a0001c0001t0051
a0001c0001t0052
a0001c0001t0053
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0002t0020
a0001c0002t0060
a0001c0002t0064
a0002c0003t0001
a0002c0003t0017
a0002c0003t0044
a0002c0003t0049
a0002c0003t0059
a0002c0006t0061
a0002c0006t0062
a0002c0006t0063
a0003c0004t0019
a0003c0004t0038
a0003c0004t0039
a0003c0004t0045
a0003c0004t0057
a0003c0004t0058
a0003c0005t0019
 50 HG00280.hp2
HG00735.hp2
HG00738.hp2
others(47): Show 
HG00280.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19081.hp2
NA19084.hp1
NA19240.hp1
NA20805.hp2
NA21309.hp1
 5_prime_UTR_variant MODIFIER c.-125C>A
c.-125C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/13 48262 chr5 76083489
chr5:76083496 G
G
 C
C
 117 a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
others(114): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
a0001c0001t0007
a0001c0001t0008
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0017
a0001c0001t0018
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0050
a0001c0001t0051
a0001c0001t0052
a0001c0001t0053
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0065
a0001c0001t0068
a0001c0001t0070
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0077
a0001c0001t0081
a0001c0001t0082
a0001c0001t0083
a0001c0001t0084
a0001c0001t0088
a0001c0001t0090
a0001c0001t0092
a0001c0002t0013
a0001c0002t0014
a0001c0002t0015
a0001c0002t0020
a0001c0002t0025
a0001c0002t0028
a0001c0002t0029
a0001c0002t0060
a0001c0002t0064
a0001c0002t0089
a0001c0002t0093
a0001c0002t0096
a0001c0002t0097
a0001c0002t0098
a0001c0002t0099
a0001c0002t0100
a0001c0002t0101
a0001c0002t0102
a0001c0002t0103
a0001c0002t0104
a0001c0002t0105
a0001c0002t0106
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0114
a0001c0007t0004
a0001c0007t0007
a0001c0007t0078
a0001c0009t0076
a0001c0013t0014
a0001c0015t0079
a0002c0003t0001
a0002c0003t0013
a0002c0003t0017
a0002c0003t0021
a0002c0003t0026
a0002c0003t0044
a0002c0003t0049
a0002c0003t0059
a0002c0003t0067
a0002c0003t0071
a0002c0003t0072
a0002c0003t0080
a0002c0003t0085
a0002c0003t0086
a0002c0003t0087
a0002c0006t0061
a0002c0006t0062
a0002c0006t0063
a0002c0006t0094
a0002c0006t0095
a0002c0008t0002
a0002c0008t0007
a0003c0004t0012
a0003c0004t0019
a0003c0004t0026
a0003c0004t0038
a0003c0004t0039
a0003c0004t0045
a0003c0004t0057
a0003c0004t0058
a0003c0004t0066
a0003c0004t0069
a0003c0004t0091
a0003c0005t0019
a0003c0005t0030
a0003c0005t0113
a0003c0005t0115
a0003c0005t0116
a0004c0010t0027
 155 HG00280.hp2
HG00558.hp2
HG00642.hp1
others(152): Show 
HG00280.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 5_prime_UTR_variant MODIFIER c.-118G>C
c.-118G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/13 48255 chr5 76083496
chr5:76131693 C
C
 T
T
 58 a0001c0002t0006
a0001c0002t0014
a0001c0002t0015
others(55): Show 
a0001c0002t0006
a0001c0002t0014
a0001c0002t0015
a0001c0002t0020
a0001c0002t0028
a0001c0002t0029
a0001c0002t0035
a0001c0002t0036
a0001c0002t0037
a0001c0002t0060
a0001c0002t0064
a0001c0002t0093
a0001c0002t0096
a0001c0002t0097
a0001c0002t0098
a0001c0002t0099
a0001c0002t0100
a0001c0002t0101
a0001c0002t0102
a0001c0002t0103
a0001c0002t0104
a0001c0002t0105
a0001c0002t0106
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0114
a0001c0002t0142
a0001c0002t0144
a0001c0002t0145
a0001c0002t0146
a0001c0002t0148
a0001c0002t0149
a0001c0002t0150
a0001c0002t0151
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0001c0013t0014
a0002c0006t0034
a0002c0006t0061
a0002c0006t0062
a0002c0006t0063
a0002c0006t0094
a0002c0006t0095
a0002c0006t0147
a0003c0005t0030
a0003c0005t0034
a0003c0005t0113
a0003c0005t0115
a0003c0005t0116
a0003c0005t0155
a0003c0005t0156
a0005c0011t0143
a0006c0012t0035
 71 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(68): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp2
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02602.hp2
HG02615.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
HG03540.hp2
HG03834.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA18998.hp2
NA19043.hp1
NA19056.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 5_prime_UTR_variant MODIFIER c.-58C>T
c.-58C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/13 58 chr5 76131693
chr5:76325754 T
T
 G
G
 4 a0001c0001t0065
a0001c0001t0117
a0001c0001t0118
others(1): Show 
a0001c0001t0065
a0001c0001t0117
a0001c0001t0118
a0001c0002t0093
 4 HG02258.hp2
HG02886.hp2
HG03486.hp1
others(1): Show 
HG02258.hp2
HG02886.hp2
HG03486.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*207T>G
c.*207T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 207 chr5 76325754
chr5:76325972 G
G
 C
C
 2 a0001c0002t0028
a0001c0002t0060
a0001c0002t0028
a0001c0002t0060
 3 NA18945.hp2
NA19063.hp2
NA19084.hp1
NA18945.hp2
NA19063.hp2
NA19084.hp1
 3_prime_UTR_variant MODIFIER c.*425G>C
c.*425G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 425 chr5 76325972
chr5:76325976 C
C
 CT
CT
 23 a0001c0001t0002
a0001c0001t0033
a0001c0001t0092
others(20): Show 
a0001c0001t0002
a0001c0001t0033
a0001c0001t0092
a0001c0001t0141
a0001c0001t0157
a0001c0002t0114
a0002c0003t0033
a0002c0003t0059
a0002c0008t0002
a0003c0004t0016
a0003c0004t0019
a0003c0004t0057
a0003c0004t0058
a0003c0004t0091
a0003c0004t0139
a0003c0004t0140
a0003c0005t0019
a0003c0005t0030
a0003c0005t0115
a0003c0005t0116
a0003c0005t0155
a0003c0005t0156
a0004c0010t0027
 32 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(29): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01106.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp2
HG02559.hp1
HG02559.hp2
HG02922.hp2
HG03195.hp2
NA18522.hp2
NA18906.hp1
NA18952.hp2
NA18968.hp2
NA18975.hp2
NA19007.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*444dupT
c.*444dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 445 INFO_REALIGN_3_PRIME chr5 76325976
chr5:76325976 CT
CT
 C
C
 26 a0001c0001t0010
a0001c0001t0040
a0001c0001t0068
others(23): Show 
a0001c0001t0010
a0001c0001t0040
a0001c0001t0068
a0001c0001t0070
a0001c0001t0073
a0001c0001t0074
a0001c0001t0121
a0001c0001t0122
a0001c0002t0096
a0002c0003t0021
a0002c0003t0067
a0002c0003t0071
a0002c0003t0072
a0002c0003t0119
a0002c0006t0034
a0002c0006t0061
a0002c0006t0062
a0002c0006t0063
a0002c0006t0094
a0002c0006t0095
a0003c0004t0038
a0003c0004t0039
a0003c0004t0066
a0003c0004t0069
a0003c0004t0120
a0003c0005t0034
 29 HG00280.hp2
HG00558.hp1
HG00738.hp2
others(26): Show 
HG00280.hp2
HG00558.hp1
HG00738.hp2
HG01109.hp1
HG01433.hp2
HG01891.hp1
HG02080.hp1
HG02615.hp1
HG02630.hp1
HG02895.hp2
HG02896.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03540.hp1
HG03834.hp1
NA18906.hp2
NA18955.hp1
NA18960.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19079.hp1
NA19083.hp1
NA19084.hp2
NA19091.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*444delT
c.*444delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 444 INFO_REALIGN_3_PRIME chr5 76325976
chr5:76326730 C
C
 G
G
 3 a0001c0001t0065
a0001c0001t0118
a0001c0002t0093
a0001c0001t0065
a0001c0001t0118
a0001c0002t0093
 3 HG02886.hp2
HG03486.hp1
NA19043.hp1
HG02886.hp2
HG03486.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*1183C>G
c.*1183C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 1183 chr5 76326730
chr5:76326989 C
C
 A
A
 19 a0001c0001t0001
a0001c0001t0003
a0001c0001t0022
others(16): Show 
a0001c0001t0001
a0001c0001t0003
a0001c0001t0022
a0001c0001t0023
a0001c0001t0075
a0001c0001t0077
a0001c0001t0123
a0001c0002t0014
a0001c0002t0020
a0001c0002t0035
a0001c0002t0064
a0001c0002t0097
a0001c0002t0098
a0001c0002t0142
a0001c0009t0076
a0001c0013t0014
a0002c0003t0001
a0002c0003t0124
a0006c0012t0035
 36 HG00558.hp2
HG01123.hp2
HG01168.hp2
others(33): Show 
HG00558.hp2
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01943.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG04228.hp2
NA18945.hp1
NA18952.hp1
NA18955.hp2
NA18966.hp2
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19011.hp1
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*1442C>A
c.*1442C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 1442 chr5 76326989
chr5:76327028 TA
TA
 T
T
 3 a0001c0001t0040
a0001c0001t0074
a0001c0001t0122
a0001c0001t0040
a0001c0001t0074
a0001c0001t0122
 3 HG02630.hp1
HG03041.hp1
HG03540.hp1
HG02630.hp1
HG03041.hp1
HG03540.hp1
 3_prime_UTR_variant MODIFIER c.*1482delA
c.*1482delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 1482 chr5 76327028
chr5:76327045 G
G
 A
A
 39 a0001c0001t0001
a0001c0001t0003
a0001c0001t0007
others(36): Show 
a0001c0001t0001
a0001c0001t0003
a0001c0001t0007
a0001c0001t0012
a0001c0001t0017
a0001c0001t0022
a0001c0001t0023
a0001c0001t0041
a0001c0001t0042
a0001c0001t0075
a0001c0001t0077
a0001c0001t0123
a0001c0001t0125
a0001c0001t0126
a0001c0002t0014
a0001c0002t0020
a0001c0002t0035
a0001c0002t0036
a0001c0002t0064
a0001c0002t0097
a0001c0002t0098
a0001c0002t0099
a0001c0002t0100
a0001c0002t0101
a0001c0002t0142
a0001c0002t0144
a0001c0007t0007
a0001c0007t0078
a0001c0009t0076
a0001c0013t0014
a0001c0015t0079
a0002c0003t0001
a0002c0003t0017
a0002c0003t0124
a0002c0008t0007
a0003c0004t0012
a0003c0004t0066
a0005c0011t0143
a0006c0012t0035
 59 HG00558.hp2
HG00733.hp2
HG01074.hp2
others(56): Show 
HG00558.hp2
HG00733.hp2
HG01074.hp2
HG01123.hp2
HG01168.hp2
HG01243.hp1
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01515.hp1
HG01928.hp1
HG01943.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02895.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG04228.hp2
NA18945.hp1
NA18952.hp1
NA18955.hp2
NA18966.hp2
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19011.hp1
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19091.hp2
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*1498G>A
c.*1498G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 1498 chr5 76327045
chr5:76327254 G
G
 C
C
 1 a0002c0006t0061
a0002c0006t0061
 1 HG02080.hp1
HG02080.hp1
 3_prime_UTR_variant MODIFIER c.*1707G>C
c.*1707G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 1707 chr5 76327254
chr5:76327476 G
G
 A
A
 3 a0001c0001t0040
a0001c0001t0074
a0001c0001t0122
a0001c0001t0040
a0001c0001t0074
a0001c0001t0122
 3 HG02630.hp1
HG03041.hp1
HG03540.hp1
HG02630.hp1
HG03041.hp1
HG03540.hp1
 3_prime_UTR_variant MODIFIER c.*1929G>A
c.*1929G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 1929 chr5 76327476
chr5:76327591 T
T
 C
C
 1 a0001c0002t0097
a0001c0002t0097
 1 NA19068.hp2
NA19068.hp2
 3_prime_UTR_variant MODIFIER c.*2044T>C
c.*2044T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 2044 chr5 76327591
chr5:76327800 C
C
 G
G
 14 a0001c0001t0033
a0001c0001t0054
a0001c0001t0055
others(11): Show 
a0001c0001t0033
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0092
a0001c0001t0141
a0001c0001t0157
a0002c0003t0033
a0002c0003t0059
a0003c0005t0030
a0003c0005t0113
a0003c0005t0115
a0003c0005t0116
a0003c0005t0156
 15 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(12): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG01074.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02145.hp2
NA18951.hp2
NA18968.hp2
NA18975.hp1
NA19056.hp1
NA19060.hp2
NA19088.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2253C>G
c.*2253C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 2253 chr5 76327800
chr5:76327801 T
T
 C
C
 1 a0002c0003t0080
a0002c0003t0080
 1 HG03209.hp2
HG03209.hp2
 3_prime_UTR_variant MODIFIER c.*2254T>C
c.*2254T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 2254 chr5 76327801
chr5:76327860 T
T
 G
G
 1 a0001c0001t0043
a0001c0001t0043
 1 HG02735.hp2
HG02735.hp2
 3_prime_UTR_variant MODIFIER c.*2313T>G
c.*2313T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 2313 chr5 76327860
chr5:76327864 A
A
 G
G
 89 a0001c0001t0002
a0001c0001t0005
a0001c0001t0008
others(86): Show 
a0001c0001t0002
a0001c0001t0005
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0013
a0001c0001t0018
a0001c0001t0024
a0001c0001t0025
a0001c0001t0031
a0001c0001t0032
a0001c0001t0043
a0001c0001t0047
a0001c0001t0048
a0001c0001t0050
a0001c0001t0051
a0001c0001t0052
a0001c0001t0053
a0001c0001t0070
a0001c0001t0073
a0001c0001t0082
a0001c0001t0083
a0001c0001t0084
a0001c0001t0088
a0001c0001t0090
a0001c0001t0121
a0001c0001t0126
a0001c0001t0131
a0001c0001t0132
a0001c0001t0133
a0001c0001t0135
a0001c0001t0136
a0001c0001t0137
a0001c0001t0138
a0001c0002t0006
a0001c0002t0009
a0001c0002t0013
a0001c0002t0015
a0001c0002t0025
a0001c0002t0028
a0001c0002t0029
a0001c0002t0037
a0001c0002t0060
a0001c0002t0089
a0001c0002t0096
a0001c0002t0104
a0001c0002t0105
a0001c0002t0106
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0114
a0001c0002t0146
a0001c0002t0148
a0001c0002t0149
a0001c0002t0150
a0001c0002t0151
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0001c0009t0031
a0001c0009t0134
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0071
a0002c0003t0072
a0002c0003t0085
a0002c0003t0086
a0002c0003t0087
a0002c0006t0147
a0002c0008t0002
a0003c0004t0005
a0003c0004t0009
a0003c0004t0016
a0003c0004t0019
a0003c0004t0026
a0003c0004t0057
a0003c0004t0058
a0003c0004t0091
a0003c0004t0139
a0003c0004t0140
a0003c0005t0019
a0003c0005t0155
a0007c0014t0005
 118 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(115): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19072.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*2317A>G
c.*2317A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 2317 chr5 76327864
chr5:76327950 A
A
 G
G
 132 a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
others(129): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0013
a0001c0001t0018
a0001c0001t0024
a0001c0001t0025
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0040
a0001c0001t0043
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0050
a0001c0001t0051
a0001c0001t0052
a0001c0001t0053
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0065
a0001c0001t0068
a0001c0001t0070
a0001c0001t0073
a0001c0001t0074
a0001c0001t0082
a0001c0001t0083
a0001c0001t0084
a0001c0001t0088
a0001c0001t0090
a0001c0001t0092
a0001c0001t0117
a0001c0001t0118
a0001c0001t0121
a0001c0001t0122
a0001c0001t0126
a0001c0001t0128
a0001c0001t0130
a0001c0001t0131
a0001c0001t0132
a0001c0001t0133
a0001c0001t0135
a0001c0001t0136
a0001c0001t0137
a0001c0001t0138
a0001c0001t0141
a0001c0001t0157
a0001c0002t0006
a0001c0002t0009
a0001c0002t0013
a0001c0002t0015
a0001c0002t0025
a0001c0002t0028
a0001c0002t0029
a0001c0002t0037
a0001c0002t0060
a0001c0002t0089
a0001c0002t0093
a0001c0002t0096
a0001c0002t0103
a0001c0002t0104
a0001c0002t0105
a0001c0002t0106
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0114
a0001c0002t0146
a0001c0002t0148
a0001c0002t0149
a0001c0002t0150
a0001c0002t0151
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0001c0007t0004
a0001c0009t0031
a0001c0009t0134
a0002c0003t0013
a0002c0003t0026
a0002c0003t0033
a0002c0003t0044
a0002c0003t0049
a0002c0003t0059
a0002c0003t0071
a0002c0003t0072
a0002c0003t0080
a0002c0003t0085
a0002c0003t0086
a0002c0003t0087
a0002c0003t0119
a0002c0003t0129
a0002c0006t0034
a0002c0006t0061
a0002c0006t0063
a0002c0006t0095
a0002c0006t0147
a0002c0008t0002
a0003c0004t0005
a0003c0004t0009
a0003c0004t0016
a0003c0004t0019
a0003c0004t0026
a0003c0004t0038
a0003c0004t0039
a0003c0004t0045
a0003c0004t0057
a0003c0004t0058
a0003c0004t0069
a0003c0004t0091
a0003c0004t0120
a0003c0004t0139
a0003c0004t0140
a0003c0005t0019
a0003c0005t0030
a0003c0005t0034
a0003c0005t0113
a0003c0005t0115
a0003c0005t0116
a0003c0005t0155
a0003c0005t0156
a0004c0010t0027
a0007c0014t0005
 167 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(164): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19072.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2403A>G
c.*2403A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 2403 chr5 76327950
chr5:76328117 T
T
 C
C
 5 a0001c0001t0002
a0001c0001t0082
a0002c0008t0002
others(2): Show 
a0001c0001t0002
a0001c0001t0082
a0002c0008t0002
a0003c0004t0057
a0003c0004t0139
 10 HG01884.hp1
HG02055.hp1
HG02109.hp1
others(7): Show 
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02559.hp1
HG02559.hp2
HG02818.hp1
HG02922.hp2
HG03195.hp2
NA18522.hp2
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*2570T>C
c.*2570T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 2570 chr5 76328117
chr5:76328408 T
T
 A
A
 1 a0001c0001t0068
a0001c0001t0068
 1 HG02896.hp2
HG02896.hp2
 3_prime_UTR_variant MODIFIER c.*2861T>A
c.*2861T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 2861 chr5 76328408
chr5:76328455 G
G
 A
A
 2 a0001c0007t0078
a0005c0011t0143
a0001c0007t0078
a0005c0011t0143
 2 HG02280.hp2
HG03098.hp1
HG02280.hp2
HG03098.hp1
 3_prime_UTR_variant MODIFIER c.*2908G>A
c.*2908G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 2908 chr5 76328455
chr5:76328663 C
C
 T
T
 1 a0001c0001t0046
a0001c0001t0046
 1 HG02258.hp1
HG02258.hp1
 3_prime_UTR_variant MODIFIER c.*3116C>T
c.*3116C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 3116 chr5 76328663
chr5:76328689 A
A
 G
G
 16 a0001c0001t0008
a0001c0001t0032
a0001c0001t0053
others(13): Show 
a0001c0001t0008
a0001c0001t0032
a0001c0001t0053
a0001c0001t0090
a0001c0001t0121
a0001c0001t0126
a0001c0002t0029
a0001c0002t0096
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0150
a0001c0002t0151
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
 21 HG00140.hp1
HG00140.hp2
HG00423.hp2
others(18): Show 
HG00140.hp1
HG00140.hp2
HG00423.hp2
HG00733.hp1
HG01168.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01981.hp1
HG02083.hp2
HG02738.hp1
HG03704.hp1
HG03834.hp1
HG04228.hp1
NA18966.hp1
NA19056.hp2
NA19060.hp1
NA19083.hp1
NA19088.hp2
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*3142A>G
c.*3142A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 3142 chr5 76328689
chr5:76328769 A
A
 AT
AT
 18 a0001c0001t0004
a0001c0001t0073
a0001c0001t0130
others(15): Show 
a0001c0001t0004
a0001c0001t0073
a0001c0001t0130
a0001c0002t0093
a0001c0002t0103
a0001c0007t0004
a0002c0003t0080
a0002c0003t0119
a0002c0003t0129
a0002c0006t0034
a0002c0006t0061
a0002c0006t0063
a0002c0006t0095
a0003c0004t0038
a0003c0004t0039
a0003c0004t0069
a0003c0004t0120
a0003c0005t0034
 22 HG00558.hp1
HG00642.hp2
HG01243.hp2
others(19): Show 
HG00558.hp1
HG00642.hp2
HG01243.hp2
HG01891.hp1
HG02080.hp1
HG02145.hp1
HG02486.hp1
HG02615.hp1
HG02895.hp1
HG02965.hp1
HG02976.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp2
NA18906.hp2
NA18960.hp2
NA18981.hp1
NA19043.hp1
NA19043.hp2
NA19091.hp1
NA19240.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*3236dupT
c.*3236dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 3237 INFO_REALIGN_3_PRIME chr5 76328769
chr5:76328769 AT
AT
 A
A
 5 a0001c0001t0011
a0001c0001t0083
a0001c0001t0084
others(2): Show 
a0001c0001t0011
a0001c0001t0083
a0001c0001t0084
a0001c0001t0131
a0001c0002t0110
 7 HG02572.hp2
HG02723.hp2
HG03139.hp2
others(4): Show 
HG02572.hp2
HG02723.hp2
HG03139.hp2
HG03486.hp2
NA18954.hp1
NA18968.hp1
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*3236delT
c.*3236delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 3236 INFO_REALIGN_3_PRIME chr5 76328769
chr5:76328786 G
G
 A
A
 1 a0001c0002t0098
a0001c0002t0098
 1 HG02109.hp2
HG02109.hp2
 3_prime_UTR_variant MODIFIER c.*3239G>A
c.*3239G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 3239 chr5 76328786
chr5:76328914 G
G
 A
A
 1 a0001c0001t0054
a0001c0001t0054
 1 NA18975.hp1
NA18975.hp1
 3_prime_UTR_variant MODIFIER c.*3367G>A
c.*3367G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 3367 chr5 76328914
chr5:76328966 G
G
 A
A
 1 a0001c0001t0132
a0001c0001t0132
 1 HG01884.hp2
HG01884.hp2
 3_prime_UTR_variant MODIFIER c.*3419G>A
c.*3419G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 3419 chr5 76328966
chr5:76329048 G
G
 T
T
 1 a0001c0002t0149
a0001c0002t0149
 1 HG03540.hp2
HG03540.hp2
 3_prime_UTR_variant MODIFIER c.*3501G>T
c.*3501G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 3501 chr5 76329048
chr5:76329449 T
T
 C
C
 10 a0001c0001t0008
a0001c0001t0090
a0001c0001t0121
others(7): Show 
a0001c0001t0008
a0001c0001t0090
a0001c0001t0121
a0001c0001t0126
a0001c0002t0029
a0001c0002t0096
a0001c0002t0110
a0001c0002t0111
a0001c0002t0150
a0001c0002t0151
 14 HG00140.hp1
HG00733.hp1
HG01168.hp1
others(11): Show 
HG00140.hp1
HG00733.hp1
HG01168.hp1
HG01255.hp1
HG01256.hp2
HG01981.hp1
HG02083.hp2
HG02738.hp1
HG03834.hp1
HG04228.hp1
NA19060.hp1
NA19083.hp1
NA19088.hp2
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*3902T>C
c.*3902T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 3902 chr5 76329449
chr5:76329589 G
G
 A
A
 59 a0001c0001t0002
a0001c0001t0004
a0001c0001t0008
others(56): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0008
a0001c0001t0010
a0001c0001t0024
a0001c0001t0031
a0001c0001t0032
a0001c0001t0047
a0001c0001t0053
a0001c0001t0065
a0001c0001t0070
a0001c0001t0073
a0001c0001t0082
a0001c0001t0090
a0001c0001t0117
a0001c0001t0118
a0001c0001t0121
a0001c0001t0125
a0001c0001t0126
a0001c0001t0130
a0001c0001t0133
a0001c0002t0006
a0001c0002t0029
a0001c0002t0037
a0001c0002t0093
a0001c0002t0096
a0001c0002t0103
a0001c0002t0104
a0001c0002t0105
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0146
a0001c0002t0150
a0001c0002t0151
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0001c0007t0004
a0001c0009t0031
a0001c0009t0134
a0002c0003t0044
a0002c0003t0071
a0002c0003t0085
a0002c0003t0119
a0002c0003t0129
a0002c0006t0034
a0002c0006t0063
a0002c0006t0095
a0002c0006t0147
a0002c0008t0002
a0003c0004t0038
a0003c0004t0039
a0003c0004t0057
a0003c0004t0066
a0003c0004t0069
a0003c0004t0120
a0003c0004t0139
a0003c0005t0034
 81 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(78): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp2
HG01981.hp1
HG02055.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03704.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18960.hp2
NA18966.hp1
NA18981.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19083.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*4042G>A
c.*4042G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4042 chr5 76329589
chr5:76329652 G
G
 A
A
 5 a0001c0001t0002
a0001c0001t0082
a0002c0008t0002
others(2): Show 
a0001c0001t0002
a0001c0001t0082
a0002c0008t0002
a0003c0004t0057
a0003c0004t0139
 10 HG01884.hp1
HG02055.hp1
HG02109.hp1
others(7): Show 
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02559.hp1
HG02559.hp2
HG02818.hp1
HG02922.hp2
HG03195.hp2
NA18522.hp2
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*4105G>A
c.*4105G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4105 chr5 76329652
chr5:76329715 A
A
 AT
AT
 18 a0001c0001t0033
a0001c0001t0054
a0001c0001t0055
others(15): Show 
a0001c0001t0033
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0068
a0001c0001t0092
a0001c0001t0128
a0001c0001t0141
a0001c0001t0157
a0002c0003t0033
a0002c0003t0059
a0003c0004t0045
a0003c0005t0030
a0003c0005t0113
a0003c0005t0115
a0003c0005t0116
a0003c0005t0156
a0004c0010t0027
 20 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(17): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02145.hp2
HG02896.hp2
HG03098.hp2
NA18951.hp2
NA18968.hp2
NA18975.hp1
NA19056.hp1
NA19060.hp2
NA19088.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*4176dupT
c.*4176dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4177 INFO_REALIGN_3_PRIME chr5 76329715
chr5:76329792 G
G
 C
C
 2 a0001c0001t0010
a0001c0001t0073
a0001c0001t0010
a0001c0001t0073
 4 HG00280.hp2
HG00738.hp2
HG01433.hp2
others(1): Show 
HG00280.hp2
HG00738.hp2
HG01433.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*4245G>C
c.*4245G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4245 chr5 76329792
chr5:76329910 G
G
 A
A
 1 a0001c0001t0075
a0001c0001t0075
 1 NA19081.hp1
NA19081.hp1
 3_prime_UTR_variant MODIFIER c.*4363G>A
c.*4363G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4363 chr5 76329910
chr5:76329914 CAAA
CAAA
 C
C
 18 a0001c0001t0033
a0001c0001t0054
a0001c0001t0055
others(15): Show 
a0001c0001t0033
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0068
a0001c0001t0092
a0001c0001t0128
a0001c0001t0141
a0001c0001t0157
a0002c0003t0033
a0002c0003t0059
a0003c0004t0045
a0003c0005t0030
a0003c0005t0113
a0003c0005t0115
a0003c0005t0116
a0003c0005t0156
a0004c0010t0027
 20 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(17): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02145.hp2
HG02896.hp2
HG03098.hp2
NA18951.hp2
NA18968.hp2
NA18975.hp1
NA19056.hp1
NA19060.hp2
NA19088.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*4368_*4370delAAA
c.*4368_*4370delAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4368 chr5 76329914
chr5:76329926 G
G
 T
T
 2 a0002c0003t0085
a0002c0006t0147
a0002c0003t0085
a0002c0006t0147
 2 HG01496.hp1
HG03209.hp1
HG01496.hp1
HG03209.hp1
 3_prime_UTR_variant MODIFIER c.*4379G>T
c.*4379G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4379 chr5 76329926
chr5:76330064 CA
CA
 C
C
 85 a0001c0001t0002
a0001c0001t0005
a0001c0001t0008
others(82): Show 
a0001c0001t0002
a0001c0001t0005
a0001c0001t0008
a0001c0001t0009
a0001c0001t0011
a0001c0001t0013
a0001c0001t0018
a0001c0001t0024
a0001c0001t0025
a0001c0001t0031
a0001c0001t0032
a0001c0001t0040
a0001c0001t0043
a0001c0001t0047
a0001c0001t0050
a0001c0001t0051
a0001c0001t0052
a0001c0001t0053
a0001c0001t0070
a0001c0001t0074
a0001c0001t0082
a0001c0001t0083
a0001c0001t0084
a0001c0001t0088
a0001c0001t0090
a0001c0001t0121
a0001c0001t0126
a0001c0001t0131
a0001c0001t0132
a0001c0001t0133
a0001c0001t0136
a0001c0001t0137
a0001c0001t0138
a0001c0002t0006
a0001c0002t0009
a0001c0002t0013
a0001c0002t0015
a0001c0002t0025
a0001c0002t0028
a0001c0002t0029
a0001c0002t0037
a0001c0002t0060
a0001c0002t0089
a0001c0002t0096
a0001c0002t0104
a0001c0002t0105
a0001c0002t0106
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0114
a0001c0002t0146
a0001c0002t0148
a0001c0002t0149
a0001c0002t0150
a0001c0002t0151
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0001c0009t0031
a0001c0009t0134
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0071
a0002c0003t0072
a0002c0003t0087
a0002c0008t0002
a0003c0004t0005
a0003c0004t0009
a0003c0004t0016
a0003c0004t0019
a0003c0004t0026
a0003c0004t0057
a0003c0004t0058
a0003c0004t0091
a0003c0004t0139
a0003c0004t0140
a0003c0005t0019
a0003c0005t0155
a0003c0005t0156
a0007c0014t0005
 112 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(109): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02083.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19072.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*4532delA
c.*4532delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4532 INFO_REALIGN_3_PRIME chr5 76330064
chr5:76330079 A
A
 C
C
 1 a0001c0001t0052
a0001c0001t0052
 1 HG04184.hp1
HG04184.hp1
 3_prime_UTR_variant MODIFIER c.*4532A>C
c.*4532A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4532 chr5 76330079
chr5:76330127 G
G
 A
A
 29 a0001c0001t0002
a0001c0001t0008
a0001c0001t0024
others(26): Show 
a0001c0001t0002
a0001c0001t0008
a0001c0001t0024
a0001c0001t0031
a0001c0001t0047
a0001c0001t0068
a0001c0001t0070
a0001c0001t0082
a0001c0001t0090
a0001c0001t0121
a0001c0001t0126
a0001c0001t0133
a0001c0002t0006
a0001c0002t0029
a0001c0002t0037
a0001c0002t0096
a0001c0002t0104
a0001c0002t0105
a0001c0002t0110
a0001c0002t0111
a0001c0002t0146
a0001c0002t0149
a0001c0002t0150
a0001c0002t0151
a0001c0009t0031
a0001c0009t0134
a0002c0008t0002
a0003c0004t0057
a0003c0004t0139
 44 HG00140.hp1
HG00733.hp1
HG00738.hp1
others(41): Show 
HG00140.hp1
HG00733.hp1
HG00738.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01884.hp1
HG01928.hp2
HG01981.hp1
HG02055.hp1
HG02083.hp2
HG02109.hp1
HG02257.hp1
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02896.hp2
HG02922.hp2
HG02970.hp1
HG03195.hp2
HG03540.hp2
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp2
NA18906.hp1
NA19060.hp1
NA19083.hp1
NA19088.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*4580G>A
c.*4580G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4580 chr5 76330127
chr5:76330147 G
G
 A
A
 1 a0002c0006t0061
a0002c0006t0061
 1 HG02080.hp1
HG02080.hp1
 3_prime_UTR_variant MODIFIER c.*4600G>A
c.*4600G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4600 chr5 76330147
chr5:76330225 C
C
 A
A
 1 a0001c0001t0010
a0001c0001t0010
 3 HG00280.hp2
HG00738.hp2
HG01433.hp2
HG00280.hp2
HG00738.hp2
HG01433.hp2
 3_prime_UTR_variant MODIFIER c.*4678C>A
c.*4678C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4678 chr5 76330225
chr5:76330523 C
C
 G
G
 56 a0001c0001t0005
a0001c0001t0009
a0001c0001t0011
others(53): Show 
a0001c0001t0005
a0001c0001t0009
a0001c0001t0011
a0001c0001t0013
a0001c0001t0018
a0001c0001t0025
a0001c0001t0032
a0001c0001t0043
a0001c0001t0050
a0001c0001t0051
a0001c0001t0052
a0001c0001t0053
a0001c0001t0083
a0001c0001t0084
a0001c0001t0088
a0001c0001t0131
a0001c0001t0132
a0001c0001t0136
a0001c0001t0137
a0001c0001t0138
a0001c0002t0009
a0001c0002t0013
a0001c0002t0015
a0001c0002t0025
a0001c0002t0028
a0001c0002t0060
a0001c0002t0089
a0001c0002t0106
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0112
a0001c0002t0114
a0001c0002t0148
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0071
a0002c0003t0072
a0002c0003t0085
a0002c0003t0087
a0002c0006t0147
a0003c0004t0005
a0003c0004t0009
a0003c0004t0016
a0003c0004t0019
a0003c0004t0026
a0003c0004t0058
a0003c0004t0091
a0003c0004t0140
a0003c0005t0019
a0003c0005t0155
a0007c0014t0005
 68 HG00140.hp2
HG00423.hp2
HG00735.hp1
others(65): Show 
HG00140.hp2
HG00423.hp2
HG00735.hp1
HG00741.hp1
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02056.hp1
HG02257.hp2
HG02300.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
NA18522.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp2
NA19063.hp2
NA19072.hp1
NA19081.hp2
NA19084.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*4976C>G
c.*4976C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4976 chr5 76330523
chr5:76330528 A
A
 G
G
 6 a0001c0001t0010
a0001c0001t0065
a0001c0001t0073
others(3): Show 
a0001c0001t0010
a0001c0001t0065
a0001c0001t0073
a0001c0001t0117
a0001c0001t0118
a0001c0002t0093
 8 HG00280.hp2
HG00738.hp2
HG01433.hp2
others(5): Show 
HG00280.hp2
HG00738.hp2
HG01433.hp2
HG02258.hp2
HG02886.hp2
HG03486.hp1
NA19043.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*4981A>G
c.*4981A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4981 chr5 76330528
chr5:76330545 G
G
 A
A
 151 a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
others(148): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0017
a0001c0001t0018
a0001c0001t0024
a0001c0001t0025
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0050
a0001c0001t0051
a0001c0001t0052
a0001c0001t0053
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0065
a0001c0001t0068
a0001c0001t0070
a0001c0001t0073
a0001c0001t0074
a0001c0001t0082
a0001c0001t0083
a0001c0001t0084
a0001c0001t0088
a0001c0001t0090
a0001c0001t0092
a0001c0001t0117
a0001c0001t0118
a0001c0001t0121
a0001c0001t0122
a0001c0001t0125
a0001c0001t0126
a0001c0001t0128
a0001c0001t0130
a0001c0001t0131
a0001c0001t0132
a0001c0001t0133
a0001c0001t0135
a0001c0001t0136
a0001c0001t0137
a0001c0001t0138
a0001c0001t0141
a0001c0001t0157
a0001c0002t0006
a0001c0002t0009
a0001c0002t0013
a0001c0002t0015
a0001c0002t0025
a0001c0002t0028
a0001c0002t0029
a0001c0002t0036
a0001c0002t0037
a0001c0002t0060
a0001c0002t0089
a0001c0002t0093
a0001c0002t0096
a0001c0002t0099
a0001c0002t0100
a0001c0002t0101
a0001c0002t0103
a0001c0002t0104
a0001c0002t0105
a0001c0002t0106
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0114
a0001c0002t0144
a0001c0002t0146
a0001c0002t0148
a0001c0002t0149
a0001c0002t0150
a0001c0002t0151
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0001c0007t0004
a0001c0007t0007
a0001c0007t0078
a0001c0009t0031
a0001c0009t0134
a0001c0015t0079
a0002c0003t0013
a0002c0003t0017
a0002c0003t0026
a0002c0003t0033
a0002c0003t0044
a0002c0003t0049
a0002c0003t0059
a0002c0003t0071
a0002c0003t0072
a0002c0003t0080
a0002c0003t0085
a0002c0003t0086
a0002c0003t0087
a0002c0003t0119
a0002c0003t0129
a0002c0006t0034
a0002c0006t0061
a0002c0006t0063
a0002c0006t0095
a0002c0006t0147
a0002c0008t0002
a0002c0008t0007
a0003c0004t0005
a0003c0004t0009
a0003c0004t0012
a0003c0004t0016
a0003c0004t0019
a0003c0004t0026
a0003c0004t0038
a0003c0004t0039
a0003c0004t0045
a0003c0004t0057
a0003c0004t0058
a0003c0004t0066
a0003c0004t0069
a0003c0004t0091
a0003c0004t0120
a0003c0004t0139
a0003c0004t0140
a0003c0005t0019
a0003c0005t0030
a0003c0005t0034
a0003c0005t0113
a0003c0005t0115
a0003c0005t0116
a0003c0005t0155
a0003c0005t0156
a0004c0010t0027
a0005c0011t0143
a0007c0014t0005
 189 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(186): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19072.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*4998G>A
c.*4998G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 4998 chr5 76330545
chr5:76330555 C
C
 T
T
 1 a0001c0001t0077
a0001c0001t0077
 1 HG02523.hp1
HG02523.hp1
 3_prime_UTR_variant MODIFIER c.*5008C>T
c.*5008C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5008 chr5 76330555
chr5:76330557 C
C
 T
T
 14 a0001c0001t0033
a0001c0001t0054
a0001c0001t0055
others(11): Show 
a0001c0001t0033
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0092
a0001c0001t0141
a0001c0001t0157
a0002c0003t0033
a0002c0003t0059
a0003c0005t0030
a0003c0005t0113
a0003c0005t0115
a0003c0005t0116
a0003c0005t0156
 15 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(12): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG01074.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02145.hp2
NA18951.hp2
NA18968.hp2
NA18975.hp1
NA19056.hp1
NA19060.hp2
NA19088.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*5010C>T
c.*5010C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5010 chr5 76330557
chr5:76330558 G
G
 GC
GC
 112 a0001c0001t0004
a0001c0001t0005
a0001c0001t0007
others(109): Show 
a0001c0001t0004
a0001c0001t0005
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0017
a0001c0001t0018
a0001c0001t0024
a0001c0001t0025
a0001c0001t0031
a0001c0001t0032
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0046
a0001c0001t0047
a0001c0001t0050
a0001c0001t0051
a0001c0001t0052
a0001c0001t0053
a0001c0001t0068
a0001c0001t0070
a0001c0001t0073
a0001c0001t0083
a0001c0001t0084
a0001c0001t0088
a0001c0001t0125
a0001c0001t0126
a0001c0001t0130
a0001c0001t0131
a0001c0001t0132
a0001c0001t0133
a0001c0001t0136
a0001c0001t0137
a0001c0001t0138
a0001c0002t0006
a0001c0002t0009
a0001c0002t0013
a0001c0002t0015
a0001c0002t0025
a0001c0002t0028
a0001c0002t0029
a0001c0002t0036
a0001c0002t0037
a0001c0002t0060
a0001c0002t0089
a0001c0002t0096
a0001c0002t0100
a0001c0002t0101
a0001c0002t0103
a0001c0002t0104
a0001c0002t0105
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0114
a0001c0002t0144
a0001c0002t0146
a0001c0002t0148
a0001c0002t0149
a0001c0002t0150
a0001c0002t0151
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0001c0007t0004
a0001c0007t0007
a0001c0007t0078
a0001c0009t0031
a0001c0009t0076
a0001c0009t0134
a0001c0015t0079
a0002c0003t0013
a0002c0003t0017
a0002c0003t0026
a0002c0003t0044
a0002c0003t0049
a0002c0003t0071
a0002c0003t0072
a0002c0003t0085
a0002c0003t0119
a0002c0003t0124
a0002c0003t0129
a0002c0006t0061
a0002c0006t0095
a0002c0006t0147
a0002c0008t0007
a0003c0004t0005
a0003c0004t0009
a0003c0004t0012
a0003c0004t0016
a0003c0004t0019
a0003c0004t0026
a0003c0004t0039
a0003c0004t0058
a0003c0004t0066
a0003c0004t0069
a0003c0004t0091
a0003c0004t0120
a0003c0004t0140
a0003c0005t0019
a0003c0005t0155
a0004c0010t0027
a0005c0011t0143
a0007c0014t0005
 144 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(141): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19072.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*5020dupC
c.*5020dupC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5021 INFO_REALIGN_3_PRIME chr5 76330558
chr5:76330561 C
C
 CCG
CCG
 16 a0001c0001t0033
a0001c0001t0054
a0001c0001t0055
others(13): Show 
a0001c0001t0033
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0092
a0001c0001t0128
a0001c0001t0141
a0001c0001t0157
a0002c0003t0033
a0002c0003t0059
a0003c0004t0045
a0003c0005t0030
a0003c0005t0113
a0003c0005t0115
a0003c0005t0116
a0003c0005t0156
 17 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(14): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG01074.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02145.hp2
HG03098.hp2
NA18951.hp2
NA18968.hp2
NA18975.hp1
NA19056.hp1
NA19060.hp2
NA19088.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*5015_*5016insGC
c.*5015_*5016insGC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5016 INFO_REALIGN_3_PRIME chr5 76330561
chr5:76330612 C
C
 T
T
 1 a0001c0001t0138
a0001c0001t0138
 1 HG04199.hp1
HG04199.hp1
 3_prime_UTR_variant MODIFIER c.*5065C>T
c.*5065C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5065 chr5 76330612
chr5:76330652 A
A
 T
T
 116 a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
others(113): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0013
a0001c0001t0018
a0001c0001t0024
a0001c0001t0025
a0001c0001t0031
a0001c0001t0032
a0001c0001t0040
a0001c0001t0042
a0001c0001t0043
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0050
a0001c0001t0051
a0001c0001t0052
a0001c0001t0053
a0001c0001t0065
a0001c0001t0070
a0001c0001t0073
a0001c0001t0074
a0001c0001t0082
a0001c0001t0083
a0001c0001t0084
a0001c0001t0088
a0001c0001t0090
a0001c0001t0117
a0001c0001t0118
a0001c0001t0121
a0001c0001t0122
a0001c0001t0125
a0001c0001t0126
a0001c0001t0130
a0001c0001t0131
a0001c0001t0132
a0001c0001t0133
a0001c0001t0135
a0001c0001t0136
a0001c0001t0137
a0001c0001t0138
a0001c0002t0006
a0001c0002t0009
a0001c0002t0013
a0001c0002t0015
a0001c0002t0025
a0001c0002t0028
a0001c0002t0029
a0001c0002t0037
a0001c0002t0060
a0001c0002t0089
a0001c0002t0093
a0001c0002t0096
a0001c0002t0103
a0001c0002t0104
a0001c0002t0105
a0001c0002t0106
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0114
a0001c0002t0146
a0001c0002t0148
a0001c0002t0149
a0001c0002t0150
a0001c0002t0151
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0001c0007t0004
a0001c0009t0031
a0001c0009t0134
a0002c0003t0013
a0002c0003t0026
a0002c0003t0044
a0002c0003t0049
a0002c0003t0071
a0002c0003t0072
a0002c0003t0085
a0002c0003t0086
a0002c0003t0087
a0002c0003t0119
a0002c0003t0129
a0002c0006t0034
a0002c0006t0061
a0002c0006t0063
a0002c0006t0095
a0002c0006t0147
a0002c0008t0002
a0003c0004t0005
a0003c0004t0009
a0003c0004t0016
a0003c0004t0019
a0003c0004t0026
a0003c0004t0038
a0003c0004t0039
a0003c0004t0057
a0003c0004t0058
a0003c0004t0066
a0003c0004t0069
a0003c0004t0091
a0003c0004t0120
a0003c0004t0139
a0003c0004t0140
a0003c0005t0019
a0003c0005t0034
a0003c0005t0155
a0007c0014t0005
 149 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(146): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01981.hp1
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19072.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*5105A>T
c.*5105A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5105 chr5 76330652
chr5:76330844 A
A
 AT
AT
 23 a0001c0001t0033
a0001c0001t0048
a0001c0001t0054
others(20): Show 
a0001c0001t0033
a0001c0001t0048
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0068
a0001c0001t0092
a0001c0001t0128
a0001c0001t0135
a0001c0001t0157
a0001c0015t0079
a0002c0003t0033
a0002c0003t0059
a0002c0003t0067
a0002c0003t0086
a0002c0003t0119
a0003c0004t0045
a0003c0005t0030
a0003c0005t0113
a0003c0005t0115
a0003c0005t0116
a0003c0005t0156
a0004c0010t0027
 25 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(22): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG02015.hp1
HG02015.hp2
HG02145.hp2
HG02717.hp1
HG02896.hp2
HG02976.hp1
HG03098.hp2
HG03225.hp1
NA18951.hp2
NA18968.hp2
NA18975.hp1
NA19030.hp1
NA19056.hp1
NA19060.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*5313dupT
c.*5313dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5314 INFO_REALIGN_3_PRIME chr5 76330844
chr5:76330844 A
A
 ATT
ATT
 17 a0001c0001t0004
a0001c0001t0125
a0001c0001t0130
others(14): Show 
a0001c0001t0004
a0001c0001t0125
a0001c0001t0130
a0001c0001t0141
a0001c0002t0103
a0001c0007t0004
a0002c0003t0044
a0002c0003t0129
a0002c0006t0034
a0002c0006t0063
a0002c0006t0095
a0003c0004t0038
a0003c0004t0039
a0003c0004t0066
a0003c0004t0069
a0003c0004t0120
a0003c0005t0034
 21 HG00558.hp1
HG00642.hp2
HG01243.hp2
others(18): Show 
HG00558.hp1
HG00642.hp2
HG01243.hp2
HG01891.hp1
HG02055.hp2
HG02145.hp1
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG03130.hp1
HG03139.hp1
NA18906.hp2
NA18960.hp2
NA18981.hp1
NA19043.hp2
NA19091.hp1
NA19240.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*5312_*5313dupTT
c.*5312_*5313dupTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5314 INFO_REALIGN_3_PRIME chr5 76330844
chr5:76330844 AT
AT
 A
A
 46 a0001c0001t0005
a0001c0001t0009
a0001c0001t0010
others(43): Show 
a0001c0001t0005
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0018
a0001c0001t0025
a0001c0001t0040
a0001c0001t0043
a0001c0001t0050
a0001c0001t0065
a0001c0001t0073
a0001c0001t0074
a0001c0001t0077
a0001c0001t0083
a0001c0001t0088
a0001c0001t0118
a0001c0001t0122
a0001c0001t0131
a0001c0001t0132
a0001c0001t0138
a0001c0002t0009
a0001c0002t0025
a0001c0002t0028
a0001c0002t0089
a0001c0002t0093
a0001c0002t0098
a0001c0002t0100
a0001c0002t0106
a0001c0002t0107
a0001c0002t0108
a0001c0002t0114
a0001c0002t0148
a0001c0002t0149
a0001c0002t0154
a0002c0003t0026
a0002c0003t0049
a0002c0003t0087
a0003c0004t0005
a0003c0004t0009
a0003c0004t0016
a0003c0004t0019
a0003c0004t0026
a0003c0004t0091
a0003c0005t0019
a0003c0005t0155
a0007c0014t0005
 57 HG00140.hp2
HG00280.hp2
HG00735.hp1
others(54): Show 
HG00140.hp2
HG00280.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01433.hp2
HG01884.hp2
HG01943.hp1
HG02056.hp1
HG02109.hp2
HG02257.hp2
HG02451.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04199.hp1
NA18522.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18968.hp1
NA18975.hp2
NA18998.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19063.hp2
NA19072.hp1
NA19081.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*5313delT
c.*5313delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5313 INFO_REALIGN_3_PRIME chr5 76330844
chr5:76330844 ATT
ATT
 A
A
 37 a0001c0001t0002
a0001c0001t0008
a0001c0001t0024
others(34): Show 
a0001c0001t0002
a0001c0001t0008
a0001c0001t0024
a0001c0001t0031
a0001c0001t0032
a0001c0001t0041
a0001c0001t0042
a0001c0001t0047
a0001c0001t0053
a0001c0001t0070
a0001c0001t0082
a0001c0001t0090
a0001c0001t0121
a0001c0001t0126
a0001c0001t0133
a0001c0002t0006
a0001c0002t0029
a0001c0002t0037
a0001c0002t0096
a0001c0002t0099
a0001c0002t0104
a0001c0002t0105
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0146
a0001c0002t0150
a0001c0002t0151
a0001c0002t0152
a0001c0002t0153
a0001c0009t0031
a0001c0009t0134
a0002c0003t0071
a0002c0006t0061
a0002c0008t0002
a0003c0004t0057
a0003c0004t0139
 53 HG00140.hp1
HG00423.hp2
HG00733.hp1
others(50): Show 
HG00140.hp1
HG00423.hp2
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01884.hp1
HG01928.hp2
HG01981.hp1
HG02055.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02257.hp1
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp2
NA18906.hp1
NA18966.hp1
NA19056.hp2
NA19060.hp1
NA19083.hp1
NA19088.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*5312_*5313delTT
c.*5312_*5313delTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5312 INFO_REALIGN_3_PRIME chr5 76330844
chr5:76330860 T
T
 G
G
 14 a0001c0001t0013
a0001c0001t0051
a0001c0001t0052
others(11): Show 
a0001c0001t0013
a0001c0001t0051
a0001c0001t0052
a0001c0001t0084
a0001c0001t0123
a0001c0001t0136
a0001c0002t0013
a0001c0002t0015
a0001c0002t0060
a0002c0003t0013
a0002c0003t0085
a0002c0006t0147
a0003c0004t0058
a0003c0004t0140
 16 HG01496.hp1
HG01496.hp2
HG02572.hp2
others(13): Show 
HG01496.hp1
HG01496.hp2
HG02572.hp2
HG02698.hp1
HG02886.hp1
HG02896.hp1
HG03130.hp2
HG03209.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
NA18952.hp1
NA18990.hp1
NA19001.hp1
NA19007.hp1
NA19084.hp1
 3_prime_UTR_variant MODIFIER c.*5313T>G
c.*5313T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5313 chr5 76330860
chr5:76330863 G
G
 C
C
 14 a0001c0001t0013
a0001c0001t0051
a0001c0001t0052
others(11): Show 
a0001c0001t0013
a0001c0001t0051
a0001c0001t0052
a0001c0001t0084
a0001c0001t0123
a0001c0001t0136
a0001c0002t0013
a0001c0002t0015
a0001c0002t0060
a0002c0003t0013
a0002c0003t0085
a0002c0006t0147
a0003c0004t0058
a0003c0004t0140
 16 HG01496.hp1
HG01496.hp2
HG02572.hp2
others(13): Show 
HG01496.hp1
HG01496.hp2
HG02572.hp2
HG02698.hp1
HG02886.hp1
HG02896.hp1
HG03130.hp2
HG03209.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
NA18952.hp1
NA18990.hp1
NA19001.hp1
NA19007.hp1
NA19084.hp1
 3_prime_UTR_variant MODIFIER c.*5316G>C
c.*5316G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5316 chr5 76330863
chr5:76330864 C
C
 CG
CG
 34 a0001c0001t0012
a0001c0001t0023
a0001c0001t0032
others(31): Show 
a0001c0001t0012
a0001c0001t0023
a0001c0001t0032
a0001c0001t0054
a0001c0001t0056
a0001c0001t0070
a0001c0001t0075
a0001c0001t0090
a0001c0001t0121
a0001c0001t0126
a0001c0001t0128
a0001c0001t0130
a0001c0001t0137
a0001c0001t0141
a0001c0001t0157
a0001c0002t0006
a0001c0002t0064
a0001c0002t0099
a0001c0002t0105
a0001c0002t0111
a0001c0002t0142
a0001c0002t0144
a0001c0002t0151
a0001c0002t0153
a0001c0009t0076
a0001c0009t0134
a0002c0003t0059
a0002c0003t0080
a0002c0003t0124
a0002c0006t0061
a0002c0006t0095
a0003c0004t0012
a0003c0005t0113
a0003c0005t0116
 41 HG00140.hp1
HG00423.hp1
HG00423.hp2
others(38): Show 
HG00140.hp1
HG00423.hp1
HG00423.hp2
HG00738.hp1
HG01074.hp1
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01928.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02300.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02738.hp1
HG02738.hp2
HG03098.hp2
HG03209.hp2
HG04184.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA19001.hp2
NA19056.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
 3_prime_UTR_variant MODIFIER c.*5324dupG
c.*5324dupG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5325 INFO_REALIGN_3_PRIME chr5 76330864
chr5:76330864 C
C
 G
G
 14 a0001c0001t0013
a0001c0001t0051
a0001c0001t0052
others(11): Show 
a0001c0001t0013
a0001c0001t0051
a0001c0001t0052
a0001c0001t0084
a0001c0001t0123
a0001c0001t0136
a0001c0002t0013
a0001c0002t0015
a0001c0002t0060
a0002c0003t0013
a0002c0003t0085
a0002c0006t0147
a0003c0004t0058
a0003c0004t0140
 16 HG01496.hp1
HG01496.hp2
HG02572.hp2
others(13): Show 
HG01496.hp1
HG01496.hp2
HG02572.hp2
HG02698.hp1
HG02886.hp1
HG02896.hp1
HG03130.hp2
HG03209.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
NA18952.hp1
NA18990.hp1
NA19001.hp1
NA19007.hp1
NA19084.hp1
 3_prime_UTR_variant MODIFIER c.*5317C>G
c.*5317C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5317 chr5 76330864
chr5:76330865 G
G
 C
C
 1 a0001c0002t0146
a0001c0002t0146
 1 NA20805.hp1
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*5318G>C
c.*5318G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5318 chr5 76330865
chr5:76330866 G
G
 T
T
 5 a0001c0001t0002
a0001c0001t0082
a0002c0008t0002
others(2): Show 
a0001c0001t0002
a0001c0001t0082
a0002c0008t0002
a0003c0004t0057
a0003c0004t0139
 10 HG01884.hp1
HG02055.hp1
HG02109.hp1
others(7): Show 
HG01884.hp1
HG02055.hp1
HG02109.hp1
HG02559.hp1
HG02559.hp2
HG02818.hp1
HG02922.hp2
HG03195.hp2
NA18522.hp2
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*5319G>T
c.*5319G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5319 chr5 76330866
chr5:76330898 T
T
 C
C
 136 a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
others(133): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0013
a0001c0001t0018
a0001c0001t0024
a0001c0001t0025
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0050
a0001c0001t0051
a0001c0001t0052
a0001c0001t0053
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0065
a0001c0001t0068
a0001c0001t0070
a0001c0001t0073
a0001c0001t0074
a0001c0001t0082
a0001c0001t0083
a0001c0001t0084
a0001c0001t0088
a0001c0001t0090
a0001c0001t0092
a0001c0001t0117
a0001c0001t0118
a0001c0001t0121
a0001c0001t0122
a0001c0001t0125
a0001c0001t0126
a0001c0001t0128
a0001c0001t0130
a0001c0001t0131
a0001c0001t0132
a0001c0001t0133
a0001c0001t0135
a0001c0001t0136
a0001c0001t0137
a0001c0001t0138
a0001c0001t0141
a0001c0001t0157
a0001c0002t0006
a0001c0002t0009
a0001c0002t0013
a0001c0002t0015
a0001c0002t0025
a0001c0002t0028
a0001c0002t0029
a0001c0002t0037
a0001c0002t0060
a0001c0002t0089
a0001c0002t0093
a0001c0002t0096
a0001c0002t0099
a0001c0002t0103
a0001c0002t0104
a0001c0002t0105
a0001c0002t0106
a0001c0002t0107
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0114
a0001c0002t0146
a0001c0002t0148
a0001c0002t0149
a0001c0002t0150
a0001c0002t0151
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0001c0007t0004
a0001c0009t0031
a0001c0009t0134
a0002c0003t0013
a0002c0003t0026
a0002c0003t0033
a0002c0003t0044
a0002c0003t0049
a0002c0003t0059
a0002c0003t0071
a0002c0003t0072
a0002c0003t0085
a0002c0003t0086
a0002c0003t0087
a0002c0003t0119
a0002c0003t0129
a0002c0006t0034
a0002c0006t0061
a0002c0006t0063
a0002c0006t0095
a0002c0006t0147
a0002c0008t0002
a0003c0004t0005
a0003c0004t0009
a0003c0004t0016
a0003c0004t0019
a0003c0004t0026
a0003c0004t0038
a0003c0004t0039
a0003c0004t0045
a0003c0004t0057
a0003c0004t0058
a0003c0004t0066
a0003c0004t0069
a0003c0004t0091
a0003c0004t0120
a0003c0004t0139
a0003c0004t0140
a0003c0005t0019
a0003c0005t0030
a0003c0005t0034
a0003c0005t0113
a0003c0005t0115
a0003c0005t0116
a0003c0005t0155
a0003c0005t0156
a0004c0010t0027
a0007c0014t0005
 171 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(168): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19072.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*5351T>C
c.*5351T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5351 chr5 76330898
chr5:76331109 T
T
 G
G
 6 a0001c0001t0032
a0001c0001t0053
a0001c0002t0112
others(3): Show 
a0001c0001t0032
a0001c0001t0053
a0001c0002t0112
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
 7 HG00140.hp2
HG00423.hp2
HG01256.hp1
others(4): Show 
HG00140.hp2
HG00423.hp2
HG01256.hp1
HG01258.hp2
HG03704.hp1
NA18966.hp1
NA19056.hp2
 3_prime_UTR_variant MODIFIER c.*5562T>G
c.*5562T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5562 chr5 76331109
chr5:76331351 G
G
 A
A
 3 a0001c0001t0010
a0001c0001t0070
a0001c0001t0073
a0001c0001t0010
a0001c0001t0070
a0001c0001t0073
 5 HG00280.hp2
HG00738.hp2
HG01109.hp1
others(2): Show 
HG00280.hp2
HG00738.hp2
HG01109.hp1
HG01433.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*5804G>A
c.*5804G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5804 chr5 76331351
chr5:76331434 G
G
 C
C
 6 a0001c0001t0025
a0001c0001t0088
a0001c0001t0132
others(3): Show 
a0001c0001t0025
a0001c0001t0088
a0001c0001t0132
a0001c0002t0025
a0001c0002t0089
a0001c0002t0109
 6 HG01884.hp2
HG01891.hp2
HG02451.hp2
others(3): Show 
HG01884.hp2
HG01891.hp2
HG02451.hp2
HG02809.hp1
HG02965.hp2
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*5887G>C
c.*5887G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5887 chr5 76331434
chr5:76331450 G
G
 T
T
 1 a0001c0001t0050
a0001c0001t0050
 1 HG02818.hp2
HG02818.hp2
 3_prime_UTR_variant MODIFIER c.*5903G>T
c.*5903G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5903 chr5 76331450
chr5:76331466 G
G
 A
A
 1 a0001c0001t0042
a0001c0001t0042
 1 HG03195.hp1
HG03195.hp1
 3_prime_UTR_variant MODIFIER c.*5919G>A
c.*5919G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5919 chr5 76331466
chr5:76331480 C
C
 A
A
 1 a0002c0003t0071
a0002c0003t0071
 1 HG02970.hp2
HG02970.hp2
 3_prime_UTR_variant MODIFIER c.*5933C>A
c.*5933C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5933 chr5 76331480
chr5:76331484 T
T
 C
C
 1 a0001c0001t0088
a0001c0001t0088
 1 HG02451.hp2
HG02451.hp2
 3_prime_UTR_variant MODIFIER c.*5937T>C
c.*5937T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5937 chr5 76331484
chr5:76331538 G
G
 C
C
 27 a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
others(24): Show 
a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
a0001c0001t0032
a0001c0001t0050
a0001c0001t0053
a0001c0001t0088
a0001c0001t0132
a0001c0002t0009
a0001c0002t0013
a0001c0002t0025
a0001c0002t0089
a0001c0002t0106
a0001c0002t0107
a0001c0002t0109
a0001c0002t0112
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0085
a0002c0003t0087
a0002c0006t0147
a0003c0004t0009
a0003c0004t0026
 29 HG00140.hp2
HG00423.hp2
HG01256.hp1
others(26): Show 
HG00140.hp2
HG00423.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
HG03704.hp1
NA18522.hp1
NA18966.hp1
NA19030.hp2
NA19056.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*5991G>C
c.*5991G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 5991 chr5 76331538
chr5:76331616 A
A
 G
G
 1 a0001c0001t0126
a0001c0001t0126
 1 HG02738.hp1
HG02738.hp1
 3_prime_UTR_variant MODIFIER c.*6069A>G
c.*6069A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 6069 chr5 76331616
chr5:76331735 C
C
 T
T
 27 a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
others(24): Show 
a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
a0001c0001t0032
a0001c0001t0050
a0001c0001t0053
a0001c0001t0088
a0001c0001t0132
a0001c0002t0009
a0001c0002t0013
a0001c0002t0025
a0001c0002t0089
a0001c0002t0106
a0001c0002t0107
a0001c0002t0109
a0001c0002t0112
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0085
a0002c0003t0087
a0002c0006t0147
a0003c0004t0009
a0003c0004t0026
 29 HG00140.hp2
HG00423.hp2
HG01256.hp1
others(26): Show 
HG00140.hp2
HG00423.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
HG03704.hp1
NA18522.hp1
NA18966.hp1
NA19030.hp2
NA19056.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*6188C>T
c.*6188C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 6188 chr5 76331735
chr5:76331758 G
G
 A
A
 1 a0001c0002t0151
a0001c0002t0151
 1 HG00140.hp1
HG00140.hp1
 3_prime_UTR_variant MODIFIER c.*6211G>A
c.*6211G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 6211 chr5 76331758
chr5:76331945 G
G
 C
C
 27 a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
others(24): Show 
a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
a0001c0001t0032
a0001c0001t0050
a0001c0001t0053
a0001c0001t0088
a0001c0001t0132
a0001c0002t0009
a0001c0002t0013
a0001c0002t0025
a0001c0002t0089
a0001c0002t0106
a0001c0002t0107
a0001c0002t0109
a0001c0002t0112
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0085
a0002c0003t0087
a0002c0006t0147
a0003c0004t0009
a0003c0004t0026
 29 HG00140.hp2
HG00423.hp2
HG01256.hp1
others(26): Show 
HG00140.hp2
HG00423.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
HG03704.hp1
NA18522.hp1
NA18966.hp1
NA19030.hp2
NA19056.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*6398G>C
c.*6398G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 6398 chr5 76331945
chr5:76332015 C
C
 T
T
 1 a0001c0002t0089
a0001c0002t0089
 1 NA19030.hp2
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*6468C>T
c.*6468C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 6468 chr5 76332015
chr5:76332044 G
G
 A
A
 27 a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
others(24): Show 
a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
a0001c0001t0032
a0001c0001t0050
a0001c0001t0053
a0001c0001t0088
a0001c0001t0132
a0001c0002t0009
a0001c0002t0013
a0001c0002t0025
a0001c0002t0089
a0001c0002t0106
a0001c0002t0107
a0001c0002t0109
a0001c0002t0112
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0085
a0002c0003t0087
a0002c0006t0147
a0003c0004t0009
a0003c0004t0026
 29 HG00140.hp2
HG00423.hp2
HG01256.hp1
others(26): Show 
HG00140.hp2
HG00423.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
HG03704.hp1
NA18522.hp1
NA18966.hp1
NA19030.hp2
NA19056.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*6497G>A
c.*6497G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 6497 chr5 76332044
chr5:76332081 C
C
 G
G
 9 a0001c0001t0024
a0001c0001t0041
a0001c0001t0133
others(6): Show 
a0001c0001t0024
a0001c0001t0041
a0001c0001t0133
a0001c0002t0006
a0001c0002t0037
a0001c0002t0099
a0001c0002t0104
a0001c0002t0105
a0001c0002t0146
 15 HG00738.hp1
HG01074.hp2
HG01106.hp2
others(12): Show 
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01515.hp2
HG02257.hp1
HG02280.hp1
HG02738.hp2
HG04184.hp2
HG04204.hp1
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*6534C>G
c.*6534C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 6534 chr5 76332081
chr5:76332164 T
T
 C
C
 27 a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
others(24): Show 
a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
a0001c0001t0032
a0001c0001t0050
a0001c0001t0053
a0001c0001t0088
a0001c0001t0132
a0001c0002t0009
a0001c0002t0013
a0001c0002t0025
a0001c0002t0089
a0001c0002t0106
a0001c0002t0107
a0001c0002t0109
a0001c0002t0112
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0085
a0002c0003t0087
a0002c0006t0147
a0003c0004t0009
a0003c0004t0026
 29 HG00140.hp2
HG00423.hp2
HG01256.hp1
others(26): Show 
HG00140.hp2
HG00423.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
HG03704.hp1
NA18522.hp1
NA18966.hp1
NA19030.hp2
NA19056.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*6617T>C
c.*6617T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 6617 chr5 76332164
chr5:76332281 G
G
 A
A
 24 a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
others(21): Show 
a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
a0001c0001t0050
a0001c0001t0088
a0001c0001t0132
a0001c0002t0009
a0001c0002t0013
a0001c0002t0025
a0001c0002t0089
a0001c0002t0106
a0001c0002t0107
a0001c0002t0109
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0085
a0002c0003t0087
a0002c0006t0147
a0003c0004t0009
a0003c0004t0026
 25 HG00140.hp2
HG01256.hp1
HG01258.hp2
others(22): Show 
HG00140.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA19030.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*6734G>A
c.*6734G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 6734 chr5 76332281
chr5:76332348 G
G
 C
C
 21 a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
others(18): Show 
a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
a0001c0001t0050
a0001c0001t0088
a0001c0001t0132
a0001c0002t0009
a0001c0002t0013
a0001c0002t0025
a0001c0002t0089
a0001c0002t0106
a0001c0002t0107
a0001c0002t0109
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0085
a0002c0003t0087
a0002c0006t0147
a0003c0004t0009
a0003c0004t0026
 22 HG01496.hp1
HG01884.hp2
HG01891.hp2
others(19): Show 
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA19030.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*6801G>C
c.*6801G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 6801 chr5 76332348
chr5:76332362 A
A
 C
C
 3 a0001c0001t0010
a0001c0001t0070
a0001c0001t0073
a0001c0001t0010
a0001c0001t0070
a0001c0001t0073
 5 HG00280.hp2
HG00738.hp2
HG01109.hp1
others(2): Show 
HG00280.hp2
HG00738.hp2
HG01109.hp1
HG01433.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*6815A>C
c.*6815A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 6815 chr5 76332362
chr5:76332382 T
T
 C
C
 21 a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
others(18): Show 
a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
a0001c0001t0050
a0001c0001t0088
a0001c0001t0132
a0001c0002t0009
a0001c0002t0013
a0001c0002t0025
a0001c0002t0089
a0001c0002t0106
a0001c0002t0107
a0001c0002t0109
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0085
a0002c0003t0087
a0002c0006t0147
a0003c0004t0009
a0003c0004t0026
 22 HG01496.hp1
HG01884.hp2
HG01891.hp2
others(19): Show 
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA19030.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*6835T>C
c.*6835T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 6835 chr5 76332382
chr5:76332402 C
C
 A
A
 21 a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
others(18): Show 
a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
a0001c0001t0050
a0001c0001t0088
a0001c0001t0132
a0001c0002t0009
a0001c0002t0013
a0001c0002t0025
a0001c0002t0089
a0001c0002t0106
a0001c0002t0107
a0001c0002t0109
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0085
a0002c0003t0087
a0002c0006t0147
a0003c0004t0009
a0003c0004t0026
 22 HG01496.hp1
HG01884.hp2
HG01891.hp2
others(19): Show 
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA19030.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*6855C>A
c.*6855C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 6855 chr5 76332402
chr5:76332588 A
A
 G
G
 25 a0001c0001t0008
a0001c0001t0024
a0001c0001t0031
others(22): Show 
a0001c0001t0008
a0001c0001t0024
a0001c0001t0031
a0001c0001t0041
a0001c0001t0047
a0001c0001t0090
a0001c0001t0121
a0001c0001t0126
a0001c0001t0133
a0001c0002t0006
a0001c0002t0029
a0001c0002t0037
a0001c0002t0096
a0001c0002t0099
a0001c0002t0104
a0001c0002t0105
a0001c0002t0110
a0001c0002t0111
a0001c0002t0146
a0001c0002t0149
a0001c0002t0150
a0001c0002t0151
a0001c0009t0031
a0001c0009t0134
a0002c0003t0071
 35 HG00140.hp1
HG00733.hp1
HG00738.hp1
others(32): Show 
HG00140.hp1
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01928.hp2
HG01981.hp1
HG02083.hp2
HG02257.hp1
HG02280.hp1
HG02738.hp1
HG02738.hp2
HG02970.hp1
HG02970.hp2
HG03540.hp2
HG03834.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
NA19060.hp1
NA19083.hp1
NA19088.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*7041A>G
c.*7041A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 7041 chr5 76332588
chr5:76332668 G
G
 C
C
 2 a0002c0003t0085
a0002c0006t0147
a0002c0003t0085
a0002c0006t0147
 2 HG01496.hp1
HG03209.hp1
HG01496.hp1
HG03209.hp1
 3_prime_UTR_variant MODIFIER c.*7121G>C
c.*7121G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 7121 chr5 76332668
chr5:76332695 ACCATGGA
others(11): Show 
ACCATGGAAAGCAACAAAG
 A
A
 21 a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
others(18): Show 
a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
a0001c0001t0050
a0001c0001t0088
a0001c0001t0132
a0001c0002t0009
a0001c0002t0013
a0001c0002t0025
a0001c0002t0089
a0001c0002t0106
a0001c0002t0107
a0001c0002t0109
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0085
a0002c0003t0087
a0002c0006t0147
a0003c0004t0009
a0003c0004t0026
 22 HG01496.hp1
HG01884.hp2
HG01891.hp2
others(19): Show 
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA19030.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*7172_*7189delGAAA
others(14): Show 
c.*7172_*7189delGAAAGCAACAAAGCCATG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 7172 INFO_REALIGN_3_PRIME chr5 76332695
chr5:76332883 C
C
 G
G
 4 a0001c0001t0065
a0001c0001t0117
a0001c0001t0118
others(1): Show 
a0001c0001t0065
a0001c0001t0117
a0001c0001t0118
a0001c0002t0093
 4 HG02258.hp2
HG02886.hp2
HG03486.hp1
others(1): Show 
HG02258.hp2
HG02886.hp2
HG03486.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*7336C>G
c.*7336C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 7336 chr5 76332883
chr5:76332883 C
C
 T
T
 1 a0001c0002t0102
a0001c0002t0102
 1 NA20905.hp1
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*7336C>T
c.*7336C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 7336 chr5 76332883
chr5:76332902 G
G
 A
A
 1 a0003c0005t0115
a0003c0005t0115
 1 HG00642.hp1
HG00642.hp1
 3_prime_UTR_variant MODIFIER c.*7355G>A
c.*7355G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 7355 chr5 76332902
chr5:76333108 C
C
 T
T
 1 a0001c0002t0149
a0001c0002t0149
 1 HG03540.hp2
HG03540.hp2
 3_prime_UTR_variant MODIFIER c.*7561C>T
c.*7561C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 7561 chr5 76333108
chr5:76333273 T
T
 TC
TC
 21 a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
others(18): Show 
a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
a0001c0001t0050
a0001c0001t0088
a0001c0001t0132
a0001c0002t0009
a0001c0002t0013
a0001c0002t0025
a0001c0002t0089
a0001c0002t0106
a0001c0002t0107
a0001c0002t0109
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0085
a0002c0003t0087
a0002c0006t0147
a0003c0004t0009
a0003c0004t0026
 22 HG01496.hp1
HG01884.hp2
HG01891.hp2
others(19): Show 
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA19030.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*7727dupC
c.*7727dupC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 7728 INFO_REALIGN_3_PRIME chr5 76333273
chr5:76333391 A
A
 C
C
 21 a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
others(18): Show 
a0001c0001t0009
a0001c0001t0013
a0001c0001t0025
a0001c0001t0050
a0001c0001t0088
a0001c0001t0132
a0001c0002t0009
a0001c0002t0013
a0001c0002t0025
a0001c0002t0089
a0001c0002t0106
a0001c0002t0107
a0001c0002t0109
a0002c0003t0013
a0002c0003t0026
a0002c0003t0049
a0002c0003t0085
a0002c0003t0087
a0002c0006t0147
a0003c0004t0009
a0003c0004t0026
 22 HG01496.hp1
HG01884.hp2
HG01891.hp2
others(19): Show 
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA19030.hp2
NA20129.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*7844A>C
c.*7844A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 7844 chr5 76333391
chr5:76333449 T
T
 A
A
 1 a0001c0001t0043
a0001c0001t0043
 1 HG02735.hp2
HG02735.hp2
 3_prime_UTR_variant MODIFIER c.*7902T>A
c.*7902T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 7902 chr5 76333449
chr5:76333733 C
C
 T
T
 6 a0001c0001t0032
a0001c0001t0053
a0001c0002t0112
others(3): Show 
a0001c0001t0032
a0001c0001t0053
a0001c0002t0112
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
 7 HG00140.hp2
HG00423.hp2
HG01256.hp1
others(4): Show 
HG00140.hp2
HG00423.hp2
HG01256.hp1
HG01258.hp2
HG03704.hp1
NA18966.hp1
NA19056.hp2
 3_prime_UTR_variant MODIFIER c.*8186C>T
c.*8186C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 8186 chr5 76333733
chr5:76333925 A
A
 AT
AT
 129 a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
others(126): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
a0001c0001t0007
a0001c0001t0008
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0017
a0001c0001t0018
a0001c0001t0024
a0001c0001t0025
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0051
a0001c0001t0052
a0001c0001t0053
a0001c0001t0054
a0001c0001t0055
a0001c0001t0056
a0001c0001t0065
a0001c0001t0068
a0001c0001t0070
a0001c0001t0073
a0001c0001t0074
a0001c0001t0082
a0001c0001t0083
a0001c0001t0084
a0001c0001t0088
a0001c0001t0090
a0001c0001t0092
a0001c0001t0117
a0001c0001t0118
a0001c0001t0121
a0001c0001t0122
a0001c0001t0125
a0001c0001t0126
a0001c0001t0128
a0001c0001t0130
a0001c0001t0131
a0001c0001t0132
a0001c0001t0133
a0001c0001t0135
a0001c0001t0136
a0001c0001t0137
a0001c0001t0138
a0001c0001t0141
a0001c0001t0157
a0001c0002t0006
a0001c0002t0015
a0001c0002t0025
a0001c0002t0029
a0001c0002t0036
a0001c0002t0037
a0001c0002t0089
a0001c0002t0093
a0001c0002t0096
a0001c0002t0099
a0001c0002t0100
a0001c0002t0101
a0001c0002t0103
a0001c0002t0104
a0001c0002t0105
a0001c0002t0108
a0001c0002t0109
a0001c0002t0110
a0001c0002t0111
a0001c0002t0112
a0001c0002t0114
a0001c0002t0144
a0001c0002t0146
a0001c0002t0148
a0001c0002t0150
a0001c0002t0151
a0001c0002t0152
a0001c0002t0153
a0001c0002t0154
a0001c0007t0004
a0001c0007t0007
a0001c0007t0078
a0001c0009t0031
a0001c0009t0134
a0001c0015t0079
a0002c0003t0017
a0002c0003t0033
a0002c0003t0044
a0002c0003t0059
a0002c0003t0071
a0002c0003t0072
a0002c0003t0080
a0002c0003t0086
a0002c0003t0119
a0002c0003t0129
a0002c0006t0034
a0002c0006t0063
a0002c0006t0095
a0002c0008t0002
a0002c0008t0007
a0003c0004t0005
a0003c0004t0012
a0003c0004t0016
a0003c0004t0019
a0003c0004t0038
a0003c0004t0045
a0003c0004t0057
a0003c0004t0058
a0003c0004t0066
a0003c0004t0091
a0003c0004t0139
a0003c0004t0140
a0003c0005t0019
a0003c0005t0030
a0003c0005t0034
a0003c0005t0113
a0003c0005t0115
a0003c0005t0116
a0003c0005t0155
a0003c0005t0156
a0004c0010t0027
a0005c0011t0143
a0007c0014t0005
 165 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(162): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19083.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*8388dupT
c.*8388dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 13/13 8389 INFO_REALIGN_3_PRIME chr5 76333925

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
chr5:76083535 G
G
 A
A
 19 a0001c0001t0009g0008
a0001c0001t0032g0004
a0001c0001t0033g0003
others(16): Show 
a0001c0001t0009g0008
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0142g0001
a0001c0002t0149g0019
a0003c0004t0009g0017
a0003c0004t0120g0005
a0003c0004t0139g0016
a0005c0011t0143g0015
 19 HG00423.hp2
HG01884.hp2
HG02055.hp2
others(16): Show 
HG00423.hp2
HG01884.hp2
HG02055.hp2
HG02056.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02630.hp2
HG02717.hp2
HG02886.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp2
NA18522.hp2
NA18952.hp1
NA19060.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+23G>A
c.-102+23G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76083535
chr5:76083696 T
T
 A
A
 4 a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0123g0002
others(1): Show 
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0123g0002
a0001c0002t0142g0001
 4 HG00423.hp2
HG02056.hp2
NA18952.hp1
others(1): Show 
HG00423.hp2
HG02056.hp2
NA18952.hp1
NA19060.hp2
 intron_variant MODIFIER c.-102+184T>A
c.-102+184T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76083696
chr5:76083809 G
G
 A
A
 1 a0001c0002t0104g0020
a0001c0002t0104g0020
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.-102+297G>A
c.-102+297G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76083809
chr5:76084025 C
C
 T
T
 1 a0001c0002t0102g0234
a0001c0002t0102g0234
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.-102+513C>T
c.-102+513C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084025
chr5:76084049 A
A
 G
G
 1 a0001c0001t0065g0233
a0001c0001t0065g0233
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.-102+537A>G
c.-102+537A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084049
chr5:76084073 C
C
 G
G
 1 a0001c0002t0025g0232
a0001c0002t0025g0232
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.-102+561C>G
c.-102+561C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084073
chr5:76084195 A
A
 T
T
 1 a0001c0002t0149g0019
a0001c0002t0149g0019
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.-102+683A>T
c.-102+683A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084195
chr5:76084196 C
C
 T
T
 1 a0001c0002t0149g0019
a0001c0002t0149g0019
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.-102+684C>T
c.-102+684C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084196
chr5:76084224 C
C
 G
G
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-102+712C>G
c.-102+712C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084224
chr5:76084279 G
G
 A
A
 1 a0001c0002t0025g0232
a0001c0002t0025g0232
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.-102+767G>A
c.-102+767G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084279
chr5:76084362 T
T
 C
C
 4 a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
others(1): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
a0003c0004t0069g0022
 4 HG01891.hp1
HG02109.hp1
HG03471.hp2
others(1): Show 
HG01891.hp1
HG02109.hp1
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.-102+850T>C
c.-102+850T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084362
chr5:76084373 C
C
 G
G
 1 a0001c0001t0025g0231
a0001c0001t0025g0231
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.-102+861C>G
c.-102+861C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084373
chr5:76084419 C
C
 A
A
 75 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(72): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0004g0080
a0001c0001t0007g0093
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0019g0060
 75 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(72): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01943.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02258.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-102+907C>A
c.-102+907C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084419
chr5:76084495 T
T
 C
C
 50 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(47): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0005t0019g0060
 50 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(47): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-102+983T>C
c.-102+983T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084495
chr5:76084513 A
A
 T
T
 1 a0002c0003t0044g0074
a0002c0003t0044g0074
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-102+1001A>T
c.-102+1001A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084513
chr5:76084532 G
G
 A
A
 7 a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0005g0099
others(4): Show 
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0121g0097
a0001c0001t0136g0095
a0003c0004t0016g0101
 7 NA18951.hp1
NA18990.hp2
NA19001.hp1
others(4): Show 
NA18951.hp1
NA18990.hp2
NA19001.hp1
NA19007.hp2
NA19011.hp2
NA19072.hp1
NA19083.hp1
 intron_variant MODIFIER c.-102+1020G>A
c.-102+1020G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084532
chr5:76084556 A
A
 T
T
 18 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(15): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0082g0220
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
 18 HG00642.hp2
HG00733.hp1
HG01109.hp1
others(15): Show 
HG00642.hp2
HG00733.hp1
HG01109.hp1
HG01243.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.-102+1044A>T
c.-102+1044A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084556
chr5:76084691 C
C
 T
T
 6 a0001c0001t0007g0093
a0001c0001t0068g0092
a0001c0001t0073g0089
others(3): Show 
a0001c0001t0007g0093
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0002c0003t0086g0088
a0002c0006t0095g0091
 6 HG02572.hp2
HG02615.hp1
HG02717.hp1
others(3): Show 
HG02572.hp2
HG02615.hp1
HG02717.hp1
HG02896.hp2
HG03041.hp2
NA21309.hp2
 intron_variant MODIFIER c.-102+1179C>T
c.-102+1179C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084691
chr5:76084695 C
C
 T
T
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 4 HG02083.hp1
HG02523.hp1
NA19083.hp2
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-102+1183C>T
c.-102+1183C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084695
chr5:76084718 C
C
 T
T
 7 a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0002t0093g0205
others(4): Show 
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
 7 HG01891.hp2
HG02723.hp1
HG02922.hp1
others(4): Show 
HG01891.hp2
HG02723.hp1
HG02922.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp1
NA19043.hp1
 intron_variant MODIFIER c.-102+1206C>T
c.-102+1206C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084718
chr5:76084778 C
C
 G
G
 15 a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0117g0012
others(12): Show 
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0142g0001
a0001c0002t0149g0019
a0003c0004t0009g0017
a0003c0004t0139g0016
a0005c0011t0143g0015
 15 HG00423.hp2
HG01884.hp2
HG02055.hp2
others(12): Show 
HG00423.hp2
HG01884.hp2
HG02055.hp2
HG02056.hp2
HG02145.hp1
HG02258.hp2
HG02280.hp2
HG02717.hp2
HG02886.hp2
HG03041.hp1
HG03540.hp2
NA18522.hp2
NA18952.hp1
NA19060.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+1266C>G
c.-102+1266C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084778
chr5:76084790 C
C
 T
T
 3 a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0081g0202
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0081g0202
 3 HG01255.hp2
HG01981.hp2
HG02280.hp1
HG01255.hp2
HG01981.hp2
HG02280.hp1
 intron_variant MODIFIER c.-102+1278C>T
c.-102+1278C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084790
chr5:76084798 G
G
 A
A
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 4 HG02083.hp1
HG02523.hp1
NA19083.hp2
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-102+1286G>A
c.-102+1286G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084798
chr5:76084813 G
G
 T
T
 1 a0001c0001t0024g0203
a0001c0001t0024g0203
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.-102+1301G>T
c.-102+1301G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084813
chr5:76084823 A
A
 G
G
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-102+1311A>G
c.-102+1311A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084823
chr5:76084825 G
G
 T
T
 18 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(15): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0082g0220
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
 18 HG00642.hp2
HG00733.hp1
HG01109.hp1
others(15): Show 
HG00642.hp2
HG00733.hp1
HG01109.hp1
HG01243.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.-102+1313G>T
c.-102+1313G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76084825
chr5:76085200 G
G
 C
C
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.-102+1688G>C
c.-102+1688G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76085200
chr5:76085311 A
A
 G
G
 1 a0001c0002t0020g0073
a0001c0002t0020g0073
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.-102+1799A>G
c.-102+1799A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76085311
chr5:76085407 C
C
 T
T
 2 a0003c0004t0009g0017
a0003c0004t0139g0016
a0003c0004t0009g0017
a0003c0004t0139g0016
 2 NA18522.hp2
NA20129.hp2
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+1895C>T
c.-102+1895C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76085407
chr5:76085433 A
A
 T
T
 2 a0001c0001t0009g0008
a0001c0001t0125g0007
a0001c0001t0009g0008
a0001c0001t0125g0007
 2 HG02257.hp2
HG02630.hp2
HG02257.hp2
HG02630.hp2
 intron_variant MODIFIER c.-102+1921A>T
c.-102+1921A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76085433
chr5:76085826 T
T
 TAC
TAC
 18 a0001c0001t0007g0093
a0001c0001t0012g0083
a0001c0001t0013g0085
others(15): Show 
a0001c0001t0007g0093
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0123g0002
a0001c0002t0142g0001
a0001c0015t0079g0087
a0002c0003t0080g0084
a0002c0006t0095g0091
a0003c0004t0057g0071
a0003c0004t0066g0086
 18 HG00423.hp2
HG01884.hp1
HG02056.hp2
others(15): Show 
HG00423.hp2
HG01884.hp1
HG02056.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp1
NA18952.hp1
NA19060.hp2
NA21309.hp2
 intron_variant MODIFIER c.-102+2346_-102+234
others(6): Show 
c.-102+2346_-102+2347dupCA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76085826
chr5:76085826 T
T
 TACAC
TACAC
 26 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0229
others(23): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0229
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0086g0088
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0005t0155g0149
a0005c0011t0143g0015
 26 HG01109.hp1
HG01243.hp1
HG01891.hp2
others(23): Show 
HG01109.hp1
HG01243.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA18975.hp2
NA19043.hp1
 intron_variant MODIFIER c.-102+2344_-102+234
others(8): Show 
c.-102+2344_-102+2347dupCACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76085826
chr5:76085826 T
T
 TACACAC
TACACAC
 20 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(17): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0128g0006
a0001c0002t0013g0082
a0001c0002t0029g0146
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0087g0021
a0002c0008t0002g0216
a0002c0008t0002g0218
a0003c0004t0026g0147
a0003c0004t0069g0022
 20 HG00642.hp2
HG00733.hp1
HG01891.hp1
others(17): Show 
HG00642.hp2
HG00733.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03471.hp2
HG04228.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-102+2342_-102+234
others(10): Show 
c.-102+2342_-102+2347dupCACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76085826
chr5:76085826 T
T
 TACACACA
others(1): Show 
TACACACAC
 30 a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0023g0131
others(27): Show 
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0056g0069
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0114g0125
a0002c0003t0072g0143
a0002c0006t0094g0142
a0003c0004t0019g0145
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 30 HG00642.hp1
HG01074.hp1
HG01168.hp2
others(27): Show 
HG00642.hp1
HG01074.hp1
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp2
HG02083.hp2
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02698.hp1
HG02735.hp1
NA18945.hp2
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA19056.hp1
NA19060.hp1
NA19063.hp2
NA19079.hp2
NA19081.hp2
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+2340_-102+234
others(12): Show 
c.-102+2340_-102+2347dupCACACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76085826
chr5:76085826 T
T
 TACACACA
others(3): Show 
TACACACACAC
 13 a0001c0001t0007g0122
a0001c0001t0075g0115
a0001c0002t0015g0121
others(10): Show 
a0001c0001t0007g0122
a0001c0001t0075g0115
a0001c0002t0015g0121
a0001c0002t0025g0232
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0112g0116
a0001c0013t0014g0119
a0002c0003t0085g0215
a0002c0006t0062g0068
a0003c0005t0030g0118
 13 HG01109.hp2
HG02015.hp1
HG02109.hp2
others(10): Show 
HG01109.hp2
HG02015.hp1
HG02109.hp2
HG02486.hp2
HG02602.hp2
HG02809.hp1
HG03209.hp1
HG04204.hp2
NA18992.hp2
NA18998.hp2
NA19056.hp2
NA19068.hp2
NA19081.hp1
 intron_variant MODIFIER c.-102+2338_-102+234
others(14): Show 
c.-102+2338_-102+2347dupCACACACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76085826
chr5:76085826 T
T
 TACACACA
others(5): Show 
TACACACACACAC
 13 a0001c0001t0001g0061
a0001c0001t0011g0065
a0001c0001t0018g0067
others(10): Show 
a0001c0001t0001g0061
a0001c0001t0011g0065
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0120g0005
a0003c0005t0019g0060
 13 HG01943.hp1
HG02056.hp1
HG02083.hp1
others(10): Show 
HG01943.hp1
HG02056.hp1
HG02083.hp1
HG02523.hp1
HG02523.hp2
HG03130.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18975.hp1
NA18981.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-102+2336_-102+234
others(16): Show 
c.-102+2336_-102+2347dupCACACACACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76085826
chr5:76085826 T
T
 TACACACA
others(7): Show 
TACACACACACACAC
 9 a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
others(6): Show 
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0052g0055
a0001c0001t0125g0007
a0001c0002t0096g0112
 9 HG02257.hp2
HG02300.hp2
HG02602.hp1
others(6): Show 
HG02257.hp2
HG02300.hp2
HG02602.hp1
HG02630.hp2
HG03834.hp1
HG04184.hp1
NA18968.hp1
NA18992.hp1
NA19068.hp1
 intron_variant MODIFIER c.-102+2334_-102+234
others(18): Show 
c.-102+2334_-102+2347dupCACACACACACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76085826
chr5:76085826 T
T
 TACACACA
others(9): Show 
TACACACACACACACAC
 18 a0001c0001t0008g0104
a0001c0001t0022g0108
a0001c0001t0046g0050
others(15): Show 
a0001c0001t0008g0104
a0001c0001t0022g0108
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0090g0106
a0001c0001t0122g0011
a0001c0002t0060g0052
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0006t0061g0049
a0002c0006t0063g0053
a0003c0004t0045g0048
a0003c0004t0058g0051
a0003c0004t0091g0107
a0004c0010t0027g0110
a0004c0010t0027g0111
 18 HG00558.hp2
HG00735.hp1
HG00735.hp2
others(15): Show 
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01106.hp1
HG01981.hp1
HG02080.hp1
HG02258.hp1
HG02970.hp1
HG03041.hp1
NA18960.hp2
NA19007.hp1
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.-102+2332_-102+234
others(20): Show 
c.-102+2332_-102+2347dupCACACACACACACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76085826
chr5:76085826 T
T
 TACACACA
others(11): Show 
TACACACACACACACACAC
 12 a0001c0001t0001g0039
a0001c0001t0010g0037
a0001c0001t0011g0040
others(9): Show 
a0001c0001t0001g0039
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0018g0044
a0001c0001t0050g0041
a0001c0001t0053g0045
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0064g0038
a0002c0003t0021g0103
a0002c0003t0059g0043
a0003c0004t0009g0017
 12 HG00280.hp2
HG01928.hp1
HG02015.hp2
others(9): Show 
HG00280.hp2
HG01928.hp1
HG02015.hp2
HG02723.hp2
HG02818.hp2
HG03704.hp1
NA18966.hp2
NA18998.hp1
NA19005.hp2
NA19063.hp1
NA19072.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+2330_-102+234
others(22): Show 
c.-102+2330_-102+2347dupCACACACACACACACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76085826
chr5:76085826 T
T
 TACACACA
others(13): Show 
TACACACACACACACACACAC
 10 a0001c0001t0001g0031
a0001c0001t0010g0032
a0001c0001t0010g0033
others(7): Show 
a0001c0001t0001g0031
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0017g0034
a0001c0001t0023g0102
a0001c0001t0041g0036
a0001c0001t0051g0035
a0001c0001t0130g0010
a0001c0001t0132g0009
a0002c0003t0049g0025
 10 HG00738.hp2
HG01074.hp2
HG01433.hp2
others(7): Show 
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp2
HG02080.hp2
HG02145.hp1
HG02647.hp2
HG04199.hp2
NA19001.hp2
NA20805.hp2
 intron_variant MODIFIER c.-102+2328_-102+234
others(24): Show 
c.-102+2328_-102+2347dupCACACACACACACACACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76085826
chr5:76085826 T
T
 TACACACA
others(15): Show 
TACACACACACACACACACACAC
 6 a0001c0001t0001g0027
a0001c0001t0043g0028
a0001c0001t0118g0018
others(3): Show 
a0001c0001t0001g0027
a0001c0001t0043g0028
a0001c0001t0118g0018
a0001c0001t0157g0029
a0002c0003t0017g0030
a0003c0004t0139g0016
 6 HG00423.hp1
HG02735.hp2
HG02886.hp2
others(3): Show 
HG00423.hp1
HG02735.hp2
HG02886.hp2
HG02976.hp2
HG04228.hp2
NA18522.hp2
 intron_variant MODIFIER c.-102+2326_-102+234
others(26): Show 
c.-102+2326_-102+2347dupCACACACACACACACACACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76085826
chr5:76085826 T
T
 TACACACA
others(21): Show 
TACACACACACACACACACACACACACAC
 1 a0002c0003t0001g0026
a0002c0003t0001g0026
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.-102+2320_-102+234
others(32): Show 
c.-102+2320_-102+2347dupCACACACACACACACACACACACACA
CA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76085826
chr5:76085826 TAC
TAC
 T
T
 3 a0001c0002t0152g0199
a0001c0002t0153g0200
a0003c0004t0016g0101
a0001c0002t0152g0199
a0001c0002t0153g0200
a0003c0004t0016g0101
 3 HG01256.hp1
HG01258.hp2
NA19072.hp1
HG01256.hp1
HG01258.hp2
NA19072.hp1
 intron_variant MODIFIER c.-102+2346_-102+234
others(6): Show 
c.-102+2346_-102+2347delCA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76085826
chr5:76085978 C
C
 A
A
 156 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(153): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
 156 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(153): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+2466C>A
c.-102+2466C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76085978
chr5:76086068 C
C
 A
A
 156 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(153): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
 156 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(153): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+2556C>A
c.-102+2556C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76086068
chr5:76086152 C
C
 T
T
 19 a0001c0001t0009g0008
a0001c0001t0032g0004
a0001c0001t0033g0003
others(16): Show 
a0001c0001t0009g0008
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0142g0001
a0001c0002t0149g0019
a0003c0004t0009g0017
a0003c0004t0120g0005
a0003c0004t0139g0016
a0005c0011t0143g0015
 19 HG00423.hp2
HG01884.hp2
HG02055.hp2
others(16): Show 
HG00423.hp2
HG01884.hp2
HG02055.hp2
HG02056.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02630.hp2
HG02717.hp2
HG02886.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp2
NA18522.hp2
NA18952.hp1
NA19060.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+2640C>T
c.-102+2640C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76086152
chr5:76086272 C
C
 G
G
 4 a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
others(1): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
a0003c0004t0069g0022
 4 HG01891.hp1
HG02109.hp1
HG03471.hp2
others(1): Show 
HG01891.hp1
HG02109.hp1
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.-102+2760C>G
c.-102+2760C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76086272
chr5:76086425 C
C
 T
T
 84 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(81): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0004g0080
a0001c0001t0007g0093
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0019g0060
 84 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(81): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02258.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-102+2913C>T
c.-102+2913C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76086425
chr5:76086442 T
T
 C
C
 4 a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0123g0002
others(1): Show 
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0123g0002
a0001c0002t0142g0001
 4 HG00423.hp2
HG02056.hp2
NA18952.hp1
others(1): Show 
HG00423.hp2
HG02056.hp2
NA18952.hp1
NA19060.hp2
 intron_variant MODIFIER c.-102+2930T>C
c.-102+2930T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76086442
chr5:76086451 C
C
 G
G
 1 a0001c0001t0135g0198
a0001c0001t0135g0198
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.-102+2939C>G
c.-102+2939C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76086451
chr5:76086481 C
C
 T
T
 4 a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
others(1): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
a0003c0004t0069g0022
 4 HG01891.hp1
HG02109.hp1
HG03471.hp2
others(1): Show 
HG01891.hp1
HG02109.hp1
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.-102+2969C>T
c.-102+2969C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76086481
chr5:76086587 A
A
 G
G
 6 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(3): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 6 HG02615.hp2
HG02886.hp1
HG02895.hp2
others(3): Show 
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-102+3075A>G
c.-102+3075A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76086587
chr5:76086639 C
C
 CAGGT
CAGGT
 175 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(172): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 175 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(172): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+3128_-102+312
others(8): Show 
c.-102+3128_-102+3129insGGTA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76086639
chr5:76086647 G
G
 A
A
 10 a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
others(7): Show 
a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
 10 HG02486.hp1
HG02572.hp1
HG02895.hp1
others(7): Show 
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-102+3135G>A
c.-102+3135G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76086647
chr5:76086650 T
T
 C
C
 6 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(3): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 6 HG02615.hp2
HG02886.hp1
HG02895.hp2
others(3): Show 
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-102+3138T>C
c.-102+3138T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76086650
chr5:76086802 C
C
 T
T
 1 a0002c0003t0044g0074
a0002c0003t0044g0074
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-102+3290C>T
c.-102+3290C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76086802
chr5:76087482 G
G
 C
C
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.-102+3970G>C
c.-102+3970G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76087482
chr5:76087591 T
T
 C
C
 7 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(4): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0088g0123
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 7 HG02451.hp2
HG02615.hp2
HG02886.hp1
others(4): Show 
HG02451.hp2
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-102+4079T>C
c.-102+4079T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76087591
chr5:76087724 G
G
 A
A
 1 a0001c0001t0138g0150
a0001c0001t0138g0150
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.-102+4212G>A
c.-102+4212G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76087724
chr5:76087912 TTA
TTA
 T
T
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 4 HG02083.hp1
HG02523.hp1
NA19083.hp2
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-102+4406_-102+440
others(6): Show 
c.-102+4406_-102+4407delAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76087912
chr5:76087917 T
T
 C
C
 17 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
others(14): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0082g0220
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
 17 HG00642.hp2
HG00733.hp1
HG01109.hp1
others(14): Show 
HG00642.hp2
HG00733.hp1
HG01109.hp1
HG01243.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03139.hp1
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.-102+4405T>C
c.-102+4405T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76087917
chr5:76088035 C
C
 T
T
 1 a0001c0002t0154g0197
a0001c0002t0154g0197
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.-102+4523C>T
c.-102+4523C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088035
chr5:76088128 C
C
 T
T
 1 a0003c0005t0155g0149
a0003c0005t0155g0149
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.-102+4616C>T
c.-102+4616C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088128
chr5:76088130 C
C
 T
T
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-102+4618C>T
c.-102+4618C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088130
chr5:76088151 C
C
 T
T
 1 a0001c0002t0006g0196
a0001c0002t0006g0196
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.-102+4639C>T
c.-102+4639C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088151
chr5:76088257 G
G
 T
T
 5 a0001c0002t0006g0192
a0001c0002t0037g0194
a0001c0002t0150g0191
others(2): Show 
a0001c0002t0006g0192
a0001c0002t0037g0194
a0001c0002t0150g0191
a0002c0006t0147g0195
a0003c0005t0156g0193
 5 HG00280.hp1
HG00738.hp1
HG01168.hp1
others(2): Show 
HG00280.hp1
HG00738.hp1
HG01168.hp1
HG01496.hp1
HG01515.hp2
 intron_variant MODIFIER c.-102+4745G>T
c.-102+4745G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088257
chr5:76088419 G
G
 A
A
 38 a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0023g0131
others(35): Show 
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0013t0014g0119
a0002c0003t0072g0143
a0002c0006t0094g0142
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 38 HG00642.hp1
HG01074.hp1
HG01109.hp2
others(35): Show 
HG00642.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp2
HG02015.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp2
HG02698.hp1
HG02735.hp1
HG02809.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19079.hp2
NA19081.hp1
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+4907G>A
c.-102+4907G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088419
chr5:76088427 A
A
 G
G
 175 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(172): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 175 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(172): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+4915A>G
c.-102+4915A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088427
chr5:76088441 A
A
 C
C
 1 a0001c0001t0009g0190
a0001c0001t0009g0190
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.-102+4929A>C
c.-102+4929A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088441
chr5:76088609 C
C
 T
T
 2 a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0099
a0001c0001t0005g0100
 2 NA18951.hp1
NA19011.hp2
NA18951.hp1
NA19011.hp2
 intron_variant MODIFIER c.-102+5097C>T
c.-102+5097C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088609
chr5:76088617 C
C
 T
T
 155 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(152): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
 155 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(152): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+5105C>T
c.-102+5105C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088617
chr5:76088791 C
C
 CT
CT
 45 a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
others(42): Show 
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0022g0108
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0090g0106
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0013t0014g0119
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0006t0094g0142
a0003c0004t0091g0107
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 45 HG00558.hp2
HG00642.hp1
HG00735.hp1
others(42): Show 
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp2
HG02698.hp1
HG02735.hp1
HG02809.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+5287dupT
c.-102+5287dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76088791
chr5:76088800 A
A
 C
C
 7 a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0002t0093g0205
others(4): Show 
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
 7 HG01891.hp2
HG02723.hp1
HG02922.hp1
others(4): Show 
HG01891.hp2
HG02723.hp1
HG02922.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp1
NA19043.hp1
 intron_variant MODIFIER c.-102+5288A>C
c.-102+5288A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088800
chr5:76088800 A
A
 T
T
 102 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(99): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0135g0198
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0002t0145g0189
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0005t0019g0060
a0004c0010t0027g0110
a0004c0010t0027g0111
 102 HG00280.hp2
HG00423.hp1
HG00642.hp2
others(99): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01243.hp1
HG01243.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp2
NA20300.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-102+5288A>T
c.-102+5288A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088800
chr5:76088801 A
A
 T
T
 11 a0001c0001t0002g0094
a0001c0001t0074g0208
a0001c0001t0083g0204
others(8): Show 
a0001c0001t0002g0094
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0145g0189
a0004c0010t0027g0110
a0004c0010t0027g0111
 11 HG00741.hp2
HG01106.hp1
HG01123.hp1
others(8): Show 
HG00741.hp2
HG01106.hp1
HG01123.hp1
HG01891.hp2
HG02723.hp1
HG02922.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
NA19043.hp1
 intron_variant MODIFIER c.-102+5289A>T
c.-102+5289A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088801
chr5:76088802 A
A
 T
T
 7 a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0002t0093g0205
others(4): Show 
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
 7 HG01891.hp2
HG02723.hp1
HG02922.hp1
others(4): Show 
HG01891.hp2
HG02723.hp1
HG02922.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp1
NA19043.hp1
 intron_variant MODIFIER c.-102+5290A>T
c.-102+5290A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088802
chr5:76088811 G
G
 A
A
 3 a0001c0001t0001g0027
a0001c0001t0001g0031
a0002c0003t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0031
a0002c0003t0001g0026
 3 HG02080.hp2
HG04228.hp2
NA19011.hp1
HG02080.hp2
HG04228.hp2
NA19011.hp1
 intron_variant MODIFIER c.-102+5299G>A
c.-102+5299G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088811
chr5:76088841 A
A
 C
C
 2 a0001c0002t0106g0210
a0001c0002t0109g0209
a0001c0002t0106g0210
a0001c0002t0109g0209
 2 HG01891.hp2
HG03471.hp1
HG01891.hp2
HG03471.hp1
 intron_variant MODIFIER c.-102+5329A>C
c.-102+5329A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76088841
chr5:76089397 A
A
 G
G
 1 a0001c0002t0101g0144
a0001c0002t0101g0144
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.-102+5885A>G
c.-102+5885A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76089397
chr5:76089542 C
C
 G
G
 2 a0001c0001t0001g0059
a0001c0001t0053g0045
a0001c0001t0001g0059
a0001c0001t0053g0045
 2 HG02602.hp1
HG03704.hp1
HG02602.hp1
HG03704.hp1
 intron_variant MODIFIER c.-102+6030C>G
c.-102+6030C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76089542
chr5:76089755 C
C
 T
T
 2 a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0152g0199
a0001c0002t0153g0200
 2 HG01256.hp1
HG01258.hp2
HG01256.hp1
HG01258.hp2
 intron_variant MODIFIER c.-102+6243C>T
c.-102+6243C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76089755
chr5:76089950 T
T
 C
C
 4 a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
others(1): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
a0003c0004t0069g0022
 4 HG01891.hp1
HG02109.hp1
HG03471.hp2
others(1): Show 
HG01891.hp1
HG02109.hp1
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.-102+6438T>C
c.-102+6438T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76089950
chr5:76090011 A
A
 T
T
 1 a0001c0001t0018g0044
a0001c0001t0018g0044
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.-102+6499A>T
c.-102+6499A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76090011
chr5:76090139 G
G
 C
C
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.-102+6627G>C
c.-102+6627G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76090139
chr5:76090181 A
A
 G
G
 1 a0001c0002t0025g0232
a0001c0002t0025g0232
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.-102+6669A>G
c.-102+6669A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76090181
chr5:76090508 T
T
 C
C
 2 a0001c0001t0082g0220
a0002c0008t0002g0221
a0001c0001t0082g0220
a0002c0008t0002g0221
 2 HG02559.hp2
HG02818.hp1
HG02559.hp2
HG02818.hp1
 intron_variant MODIFIER c.-102+6996T>C
c.-102+6996T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76090508
chr5:76091001 A
A
 G
G
 1 a0001c0001t0007g0093
a0001c0001t0007g0093
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.-102+7489A>G
c.-102+7489A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76091001
chr5:76091088 G
G
 A
A
 6 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(3): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 6 HG02615.hp2
HG02886.hp1
HG02895.hp2
others(3): Show 
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-102+7576G>A
c.-102+7576G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76091088
chr5:76091106 T
T
 G
G
 27 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(24): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0004c0010t0027g0110
a0004c0010t0027g0111
 27 HG00642.hp2
HG00733.hp1
HG00741.hp2
others(24): Show 
HG00642.hp2
HG00733.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01891.hp2
HG02055.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG02723.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.-102+7594T>G
c.-102+7594T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76091106
chr5:76091132 C
C
 G
G
 1 a0001c0001t0130g0010
a0001c0001t0130g0010
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.-102+7620C>G
c.-102+7620C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76091132
chr5:76091218 A
A
 G
G
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-102+7706A>G
c.-102+7706A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76091218
chr5:76091264 G
G
 T
T
 1 a0001c0001t0032g0004
a0001c0001t0032g0004
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.-102+7752G>T
c.-102+7752G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76091264
chr5:76091489 G
G
 A
A
 5 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
others(2): Show 
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0017g0034
a0001c0001t0043g0028
 5 HG00280.hp2
HG00738.hp2
HG01433.hp2
others(2): Show 
HG00280.hp2
HG00738.hp2
HG01433.hp2
HG02735.hp2
NA20805.hp2
 intron_variant MODIFIER c.-102+7977G>A
c.-102+7977G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76091489
chr5:76091696 CT
CT
 C
C
 5 a0001c0001t0012g0083
a0001c0001t0022g0214
a0001c0001t0077g0212
others(2): Show 
a0001c0001t0012g0083
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 5 HG02083.hp1
HG02523.hp1
HG02615.hp2
others(2): Show 
HG02083.hp1
HG02523.hp1
HG02615.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-102+8198delT
c.-102+8198delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76091696
chr5:76091698 T
T
 G
G
 105 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(102): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0019g0060
a0004c0010t0027g0110
a0004c0010t0027g0111
 105 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(102): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-102+8186T>G
c.-102+8186T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76091698
chr5:76091765 G
G
 C
C
 6 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(3): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 6 HG02615.hp2
HG02886.hp1
HG02895.hp2
others(3): Show 
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-102+8253G>C
c.-102+8253G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76091765
chr5:76091851 A
A
 G
G
 1 a0001c0002t0103g0148
a0001c0002t0103g0148
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.-102+8339A>G
c.-102+8339A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76091851
chr5:76092093 C
C
 T
T
 1 a0001c0002t0145g0189
a0001c0002t0145g0189
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.-102+8581C>T
c.-102+8581C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76092093
chr5:76092098 T
T
 C
C
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.-102+8586T>C
c.-102+8586T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76092098
chr5:76092106 T
T
 G
G
 7 a0001c0001t0007g0122
a0001c0001t0032g0004
a0001c0001t0033g0003
others(4): Show 
a0001c0001t0007g0122
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0088g0123
a0001c0001t0123g0002
a0001c0002t0025g0232
a0001c0002t0142g0001
 7 HG00423.hp2
HG02056.hp2
HG02451.hp2
others(4): Show 
HG00423.hp2
HG02056.hp2
HG02451.hp2
HG02486.hp2
HG02809.hp1
NA18952.hp1
NA19060.hp2
 intron_variant MODIFIER c.-102+8594T>G
c.-102+8594T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76092106
chr5:76092487 T
T
 C
C
 6 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(3): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 6 HG02615.hp2
HG02886.hp1
HG02895.hp2
others(3): Show 
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-102+8975T>C
c.-102+8975T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76092487
chr5:76092592 A
A
 G
G
 4 a0001c0001t0003g0185
a0001c0009t0031g0184
a0001c0009t0134g0182
others(1): Show 
a0001c0001t0003g0185
a0001c0009t0031g0184
a0001c0009t0134g0182
a0002c0003t0124g0183
 4 HG01361.hp2
HG01433.hp1
HG01928.hp2
others(1): Show 
HG01361.hp2
HG01433.hp1
HG01928.hp2
HG01943.hp2
 intron_variant MODIFIER c.-102+9080A>G
c.-102+9080A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76092592
chr5:76092607 C
C
 T
T
 1 a0001c0001t0131g0181
a0001c0001t0131g0181
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.-102+9095C>T
c.-102+9095C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76092607
chr5:76092632 A
A
 C
C
 3 a0001c0001t0018g0067
a0002c0006t0062g0068
a0003c0004t0038g0066
a0001c0001t0018g0067
a0002c0006t0062g0068
a0003c0004t0038g0066
 3 HG02056.hp1
NA18981.hp1
NA18992.hp2
HG02056.hp1
NA18981.hp1
NA18992.hp2
 intron_variant MODIFIER c.-102+9120A>C
c.-102+9120A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76092632
chr5:76092769 C
C
 T
T
 86 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(83): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0004g0080
a0001c0001t0007g0093
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0019g0060
a0004c0010t0027g0110
a0004c0010t0027g0111
 86 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(83): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02258.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-102+9257C>T
c.-102+9257C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76092769
chr5:76093009 C
C
 T
T
 45 a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
others(42): Show 
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0090g0106
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0013t0014g0119
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0006t0094g0142
a0003c0004t0091g0107
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 45 HG00558.hp2
HG00642.hp1
HG00735.hp1
others(42): Show 
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp2
HG02698.hp1
HG02735.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+9497C>T
c.-102+9497C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76093009
chr5:76093390 G
G
 C
C
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-102+9878G>C
c.-102+9878G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76093390
chr5:76093752 G
G
 A
A
 2 a0001c0001t0009g0008
a0001c0001t0125g0007
a0001c0001t0009g0008
a0001c0001t0125g0007
 2 HG02257.hp2
HG02630.hp2
HG02257.hp2
HG02630.hp2
 intron_variant MODIFIER c.-102+10240G>A
c.-102+10240G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76093752
chr5:76093759 T
T
 G
G
 7 a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0002c0003t0086g0088
a0002c0006t0095g0091
 7 HG02486.hp2
HG02572.hp2
HG02615.hp1
others(4): Show 
HG02486.hp2
HG02572.hp2
HG02615.hp1
HG02717.hp1
HG02896.hp2
HG03041.hp2
NA21309.hp2
 intron_variant MODIFIER c.-102+10247T>G
c.-102+10247T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76093759
chr5:76093802 T
T
 C
C
 2 a0003c0004t0009g0017
a0003c0004t0139g0016
a0003c0004t0009g0017
a0003c0004t0139g0016
 2 NA18522.hp2
NA20129.hp2
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+10290T>C
c.-102+10290T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76093802
chr5:76093809 A
A
 AT
AT
 175 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(172): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 175 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(172): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+10301dupT
c.-102+10301dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76093809
chr5:76093831 T
T
 C
C
 7 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(4): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0088g0123
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 7 HG02451.hp2
HG02615.hp2
HG02886.hp1
others(4): Show 
HG02451.hp2
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-102+10319T>C
c.-102+10319T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76093831
chr5:76093976 A
A
 G
G
 1 a0001c0001t0128g0006
a0001c0001t0128g0006
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.-102+10464A>G
c.-102+10464A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76093976
chr5:76094015 A
A
 C
C
 58 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(55): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0008g0104
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0005t0019g0060
 58 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(55): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-102+10503A>C
c.-102+10503A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76094015
chr5:76094234 A
A
 G
G
 7 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(4): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0088g0123
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 7 HG02451.hp2
HG02615.hp2
HG02886.hp1
others(4): Show 
HG02451.hp2
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-102+10722A>G
c.-102+10722A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76094234
chr5:76094490 A
A
 G
G
 8 a0001c0001t0031g0179
a0001c0002t0006g0177
a0001c0002t0035g0178
others(5): Show 
a0001c0001t0031g0179
a0001c0002t0006g0177
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0146g0175
a0001c0002t0152g0199
a0001c0002t0153g0200
a0007c0014t0005g0180
 8 HG00733.hp2
HG01123.hp2
HG01256.hp1
others(5): Show 
HG00733.hp2
HG01123.hp2
HG01256.hp1
HG01258.hp2
HG02257.hp1
HG03834.hp2
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.-102+10978A>G
c.-102+10978A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76094490
chr5:76094760 A
A
 G
G
 10 a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
others(7): Show 
a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
 10 HG02486.hp1
HG02572.hp1
HG02895.hp1
others(7): Show 
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-102+11248A>G
c.-102+11248A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76094760
chr5:76094780 A
A
 G
G
 2 a0004c0010t0027g0110
a0004c0010t0027g0111
a0004c0010t0027g0110
a0004c0010t0027g0111
 2 HG00741.hp2
HG01106.hp1
HG00741.hp2
HG01106.hp1
 intron_variant MODIFIER c.-102+11268A>G
c.-102+11268A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76094780
chr5:76094886 T
T
 A
A
 58 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(55): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0008g0104
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0005t0019g0060
 58 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(55): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-102+11374T>A
c.-102+11374T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76094886
chr5:76095255 A
A
 G
G
 17 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
others(14): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0082g0220
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
 17 HG00642.hp2
HG00733.hp1
HG01109.hp1
others(14): Show 
HG00642.hp2
HG00733.hp1
HG01109.hp1
HG01243.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03139.hp1
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.-102+11743A>G
c.-102+11743A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76095255
chr5:76095310 A
A
 G
G
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 4 HG02083.hp1
HG02523.hp1
NA19083.hp2
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-102+11798A>G
c.-102+11798A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76095310
chr5:76095370 G
G
 T
T
 1 a0002c0003t0129g0188
a0002c0003t0129g0188
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.-102+11858G>T
c.-102+11858G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76095370
chr5:76095469 G
G
 T
T
 1 a0001c0002t0006g0174
a0001c0002t0006g0174
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.-102+11957G>T
c.-102+11957G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76095469
chr5:76095553 C
C
 A
A
 2 a0004c0010t0027g0110
a0004c0010t0027g0111
a0004c0010t0027g0110
a0004c0010t0027g0111
 2 HG00741.hp2
HG01106.hp1
HG00741.hp2
HG01106.hp1
 intron_variant MODIFIER c.-102+12041C>A
c.-102+12041C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76095553
chr5:76095768 G
G
 T
T
 6 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(3): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 6 HG02615.hp2
HG02886.hp1
HG02895.hp2
others(3): Show 
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-102+12256G>T
c.-102+12256G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76095768
chr5:76096173 G
G
 A
A
 4 a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
others(1): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
a0003c0004t0069g0022
 4 HG01891.hp1
HG02109.hp1
HG03471.hp2
others(1): Show 
HG01891.hp1
HG02109.hp1
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.-102+12661G>A
c.-102+12661G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76096173
chr5:76096225 T
T
 C
C
 175 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(172): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 175 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(172): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+12713T>C
c.-102+12713T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76096225
chr5:76096245 A
A
 G
G
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.-102+12733A>G
c.-102+12733A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76096245
chr5:76096510 A
A
 G
G
 1 a0001c0001t0025g0231
a0001c0001t0025g0231
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.-102+12998A>G
c.-102+12998A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76096510
chr5:76096519 T
T
 C
C
 97 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(94): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0005t0019g0060
a0004c0010t0027g0110
a0004c0010t0027g0111
 97 HG00280.hp2
HG00423.hp1
HG00642.hp2
others(94): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-102+13007T>C
c.-102+13007T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76096519
chr5:76096546 G
G
 C
C
 47 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
others(44): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0026g0147
a0003c0004t0069g0022
a0004c0010t0027g0110
a0004c0010t0027g0111
 47 HG00642.hp2
HG00733.hp1
HG00741.hp2
others(44): Show 
HG00642.hp2
HG00733.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.-102+13034G>C
c.-102+13034G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76096546
chr5:76096767 C
C
 T
T
 96 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(93): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0004c0010t0027g0110
a0004c0010t0027g0111
 96 HG00280.hp2
HG00423.hp1
HG00642.hp2
others(93): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-102+13255C>T
c.-102+13255C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76096767
chr5:76096957 G
G
 A
A
 96 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(93): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0004c0010t0027g0110
a0004c0010t0027g0111
 96 HG00280.hp2
HG00423.hp1
HG00642.hp2
others(93): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-102+13445G>A
c.-102+13445G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76096957
chr5:76097136 T
T
 C
C
 1 a0001c0002t0110g0124
a0001c0002t0110g0124
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.-102+13624T>C
c.-102+13624T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76097136
chr5:76097297 T
T
 C
C
 154 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(151): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
 154 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(151): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+13785T>C
c.-102+13785T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76097297
chr5:76097353 T
T
 A
A
 2 a0001c0002t0103g0148
a0003c0004t0026g0147
a0001c0002t0103g0148
a0003c0004t0026g0147
 2 HG02572.hp1
HG02895.hp1
HG02572.hp1
HG02895.hp1
 intron_variant MODIFIER c.-102+13841T>A
c.-102+13841T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76097353
chr5:76097392 G
G
 A
A
 176 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(173): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 176 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(173): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+13880G>A
c.-102+13880G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76097392
chr5:76097429 C
C
 T
T
 154 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(151): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
 154 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(151): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+13917C>T
c.-102+13917C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76097429
chr5:76097465 G
G
 C
C
 45 a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
others(42): Show 
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0090g0106
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0013t0014g0119
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0006t0094g0142
a0003c0004t0091g0107
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 45 HG00558.hp2
HG00642.hp1
HG00735.hp1
others(42): Show 
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp2
HG02698.hp1
HG02735.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+13953G>C
c.-102+13953G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76097465
chr5:76097793 C
C
 T
T
 49 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(46): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
 49 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(46): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-102+14281C>T
c.-102+14281C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76097793
chr5:76097813 G
G
 C
C
 49 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(46): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
 49 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(46): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-102+14301G>C
c.-102+14301G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76097813
chr5:76097863 C
C
 T
T
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 4 HG02083.hp1
HG02523.hp1
NA19083.hp2
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-102+14351C>T
c.-102+14351C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76097863
chr5:76098055 A
A
 G
G
 7 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(4): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0088g0123
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 7 HG02451.hp2
HG02615.hp2
HG02886.hp1
others(4): Show 
HG02451.hp2
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-102+14543A>G
c.-102+14543A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76098055
chr5:76098086 C
C
 A
A
 2 a0001c0001t0009g0008
a0001c0001t0125g0007
a0001c0001t0009g0008
a0001c0001t0125g0007
 2 HG02257.hp2
HG02630.hp2
HG02257.hp2
HG02630.hp2
 intron_variant MODIFIER c.-102+14574C>A
c.-102+14574C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76098086
chr5:76098285 C
C
 G
G
 2 a0001c0001t0128g0006
a0003c0004t0120g0005
a0001c0001t0128g0006
a0003c0004t0120g0005
 2 HG03098.hp2
HG03130.hp1
HG03098.hp2
HG03130.hp1
 intron_variant MODIFIER c.-102+14773C>G
c.-102+14773C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76098285
chr5:76098554 T
T
 G
G
 1 a0003c0004t0019g0145
a0003c0004t0019g0145
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.-102+15042T>G
c.-102+15042T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76098554
chr5:76098820 A
A
 G
G
 2 a0003c0004t0019g0145
a0003c0005t0019g0060
a0003c0004t0019g0145
a0003c0005t0019g0060
 2 HG01943.hp1
NA19081.hp2
HG01943.hp1
NA19081.hp2
 intron_variant MODIFIER c.-102+15308A>G
c.-102+15308A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76098820
chr5:76099090 T
T
 G
G
 104 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(101): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0004c0010t0027g0110
a0004c0010t0027g0111
 104 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(101): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-102+15578T>G
c.-102+15578T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76099090
chr5:76099205 C
C
 T
T
 4 a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0123g0002
others(1): Show 
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0123g0002
a0001c0002t0142g0001
 4 HG00423.hp2
HG02056.hp2
NA18952.hp1
others(1): Show 
HG00423.hp2
HG02056.hp2
NA18952.hp1
NA19060.hp2
 intron_variant MODIFIER c.-102+15693C>T
c.-102+15693C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76099205
chr5:76099238 A
A
 C
C
 50 a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
others(47): Show 
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0090g0106
a0001c0001t0123g0002
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0013t0014g0119
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0006t0094g0142
a0003c0004t0091g0107
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 50 HG00423.hp2
HG00558.hp2
HG00642.hp1
others(47): Show 
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp2
HG02698.hp1
HG02735.hp1
HG02809.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+15726A>C
c.-102+15726A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76099238
chr5:76099365 C
C
 CGT
CGT
 33 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
others(30): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0036g0014
a0001c0002t0103g0148
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0026g0147
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0034g0173
a0005c0011t0143g0015
 33 HG01261.hp1
HG01496.hp1
HG01891.hp1
others(30): Show 
HG01261.hp1
HG01496.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
NA18906.hp1
NA19043.hp2
NA19091.hp1
NA21309.hp2
 intron_variant MODIFIER c.-102+15882_-102+15
others(8): Show 
c.-102+15882_-102+15883dupGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76099365
chr5:76099365 C
C
 CGTGT
CGTGT
 26 a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
others(23): Show 
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0088g0123
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0007t0004g0079
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0005t0019g0060
a0004c0010t0027g0110
a0004c0010t0027g0111
 26 HG00642.hp2
HG00733.hp1
HG00741.hp2
others(23): Show 
HG00642.hp2
HG00733.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01943.hp1
HG02055.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02647.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp2
NA18522.hp1
NA19030.hp2
NA19081.hp2
NA19240.hp2
 intron_variant MODIFIER c.-102+15880_-102+15
others(10): Show 
c.-102+15880_-102+15883dupGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76099365
chr5:76099365 C
C
 CGTGTGT
CGTGTGT
 37 a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
others(34): Show 
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0022g0108
a0001c0001t0023g0131
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0013t0014g0119
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0003c0004t0091g0107
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 37 HG00558.hp2
HG00642.hp1
HG00735.hp1
others(34): Show 
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp1
HG02015.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02602.hp2
HG02698.hp1
HG02735.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp2
NA18990.hp1
NA18998.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+15878_-102+15
others(12): Show 
c.-102+15878_-102+15883dupGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76099365
chr5:76099365 C
C
 CGTGTGTG
others(1): Show 
CGTGTGTGT
 13 a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
others(10): Show 
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0004
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0102g0234
a0001c0002t0142g0001
a0002c0003t0072g0143
a0002c0006t0094g0142
a0002c0008t0002g0221
 13 HG00423.hp2
HG01255.hp1
HG01255.hp2
others(10): Show 
HG00423.hp2
HG01255.hp1
HG01255.hp2
HG01981.hp2
HG02056.hp2
HG02280.hp1
HG02559.hp2
HG02809.hp1
HG02818.hp1
NA18955.hp1
NA18981.hp2
NA19001.hp2
NA20905.hp1
 intron_variant MODIFIER c.-102+15876_-102+15
others(14): Show 
c.-102+15876_-102+15883dupGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76099365
chr5:76099365 C
C
 CGTGTGTG
others(3): Show 
CGTGTGTGTGT
 2 a0001c0001t0033g0003
a0001c0001t0123g0002
a0001c0001t0033g0003
a0001c0001t0123g0002
 2 NA18952.hp1
NA19060.hp2
NA18952.hp1
NA19060.hp2
 intron_variant MODIFIER c.-102+15874_-102+15
others(16): Show 
c.-102+15874_-102+15883dupGTGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76099365
chr5:76099365 CGT
CGT
 C
C
 8 a0001c0001t0011g0065
a0001c0001t0117g0012
a0001c0001t0122g0011
others(5): Show 
a0001c0001t0011g0065
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0003c0004t0009g0017
a0003c0004t0120g0005
a0003c0004t0139g0016
 8 HG01884.hp2
HG02145.hp1
HG02258.hp2
others(5): Show 
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG03041.hp1
HG03130.hp1
NA18522.hp2
NA18954.hp1
NA20129.hp2
 intron_variant MODIFIER c.-102+15882_-102+15
others(8): Show 
c.-102+15882_-102+15883delGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76099365
chr5:76099365 CGTGT
CGTGT
 C
C
 50 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(47): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0128g0006
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0146g0175
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
 50 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(47): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-102+15880_-102+15
others(10): Show 
c.-102+15880_-102+15883delGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76099365
chr5:76099784 C
C
 G
G
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-102+16272C>G
c.-102+16272C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76099784
chr5:76099900 T
T
 C
C
 58 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(55): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0008g0104
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0005t0019g0060
 58 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(55): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-102+16388T>C
c.-102+16388T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76099900
chr5:76099991 G
G
 A
A
 37 a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0023g0131
others(34): Show 
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0013t0014g0119
a0002c0003t0072g0143
a0002c0006t0094g0142
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 37 HG00642.hp1
HG01074.hp1
HG01109.hp2
others(34): Show 
HG00642.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp2
HG02015.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp2
HG02698.hp1
HG02735.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19079.hp2
NA19081.hp1
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+16479G>A
c.-102+16479G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76099991
chr5:76100201 G
G
 A
A
 1 a0003c0005t0019g0060
a0003c0005t0019g0060
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.-102+16689G>A
c.-102+16689G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76100201
chr5:76100337 G
G
 A
A
 1 a0001c0001t0141g0013
a0001c0001t0141g0013
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.-102+16825G>A
c.-102+16825G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76100337
chr5:76100372 A
A
 G
G
 10 a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
others(7): Show 
a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
 10 HG02486.hp1
HG02572.hp1
HG02895.hp1
others(7): Show 
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-102+16860A>G
c.-102+16860A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76100372
chr5:76100411 A
A
 G
G
 154 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(151): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
 154 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(151): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+16899A>G
c.-102+16899A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76100411
chr5:76100594 G
G
 A
A
 1 a0001c0002t0114g0125
a0001c0002t0114g0125
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.-102+17082G>A
c.-102+17082G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76100594
chr5:76100706 G
G
 A
A
 1 a0003c0005t0019g0060
a0003c0005t0019g0060
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.-102+17194G>A
c.-102+17194G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76100706
chr5:76100769 G
G
 T
T
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.-102+17257G>T
c.-102+17257G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76100769
chr5:76100902 T
T
 C
C
 75 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
others(72): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0070g0227
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0006t0094g0142
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 75 HG00423.hp2
HG00558.hp2
HG00642.hp1
others(72): Show 
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG01074.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02647.hp1
HG02698.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03139.hp1
HG03209.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+17390T>C
c.-102+17390T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76100902
chr5:76100948 C
C
 T
T
 4 a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
others(1): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
a0003c0004t0069g0022
 4 HG01891.hp1
HG02109.hp1
HG03471.hp2
others(1): Show 
HG01891.hp1
HG02109.hp1
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.-102+17436C>T
c.-102+17436C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76100948
chr5:76100983 T
T
 C
C
 6 a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
others(3): Show 
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0003c0004t0009g0017
a0003c0004t0139g0016
 6 HG01884.hp2
HG02145.hp1
HG02258.hp2
others(3): Show 
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG03041.hp1
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+17471T>C
c.-102+17471T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76100983
chr5:76101027 A
A
 G
G
 4 a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
others(1): Show 
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0003c0004t0026g0147
 4 HG02572.hp1
HG02895.hp1
HG03130.hp2
others(1): Show 
HG02572.hp1
HG02895.hp1
HG03130.hp2
NA19030.hp2
 intron_variant MODIFIER c.-102+17515A>G
c.-102+17515A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76101027
chr5:76101048 G
G
 T
T
 1 a0001c0001t0003g0171
a0001c0001t0003g0171
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.-102+17536G>T
c.-102+17536G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76101048
chr5:76101085 GA
GA
 G
G
 37 a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0023g0131
others(34): Show 
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0013t0014g0119
a0002c0003t0072g0143
a0002c0006t0094g0142
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 37 HG00642.hp1
HG01074.hp1
HG01109.hp2
others(34): Show 
HG00642.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp2
HG02015.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp2
HG02698.hp1
HG02735.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19079.hp2
NA19081.hp1
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+17574delA
c.-102+17574delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76101085
chr5:76101149 C
C
 A
A
 6 a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
others(3): Show 
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0003c0004t0009g0017
a0003c0004t0139g0016
 6 HG01884.hp2
HG02145.hp1
HG02258.hp2
others(3): Show 
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG03041.hp1
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+17637C>A
c.-102+17637C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76101149
chr5:76101338 C
C
 G
G
 1 a0003c0004t0019g0145
a0003c0004t0019g0145
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.-102+17826C>G
c.-102+17826C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76101338
chr5:76101931 A
A
 G
G
 6 a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
others(3): Show 
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0003c0004t0009g0017
a0003c0004t0139g0016
 6 HG01884.hp2
HG02145.hp1
HG02258.hp2
others(3): Show 
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG03041.hp1
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+18419A>G
c.-102+18419A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76101931
chr5:76102038 C
C
 A
A
 9 a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0002t0093g0205
others(6): Show 
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0004c0010t0027g0110
a0004c0010t0027g0111
 9 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(6): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02723.hp1
HG02922.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp1
NA19043.hp1
 intron_variant MODIFIER c.-102+18526C>A
c.-102+18526C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76102038
chr5:76102059 A
A
 G
G
 173 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(170): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 173 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(170): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+18547A>G
c.-102+18547A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76102059
chr5:76102059 A
A
 T
T
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-102+18547A>T
c.-102+18547A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76102059
chr5:76102475 G
G
 T
T
 6 a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
others(3): Show 
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0003c0004t0009g0017
a0003c0004t0139g0016
 6 HG01884.hp2
HG02145.hp1
HG02258.hp2
others(3): Show 
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG03041.hp1
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+18963G>T
c.-102+18963G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76102475
chr5:76102487 C
C
 T
T
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 4 HG02083.hp1
HG02523.hp1
NA19083.hp2
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-102+18975C>T
c.-102+18975C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76102487
chr5:76102710 G
G
 A
A
 2 a0003c0004t0019g0145
a0003c0005t0019g0060
a0003c0004t0019g0145
a0003c0005t0019g0060
 2 HG01943.hp1
NA19081.hp2
HG01943.hp1
NA19081.hp2
 intron_variant MODIFIER c.-102+19198G>A
c.-102+19198G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76102710
chr5:76102734 C
C
 G
G
 10 a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
others(7): Show 
a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
 10 HG02486.hp1
HG02572.hp1
HG02895.hp1
others(7): Show 
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-102+19222C>G
c.-102+19222C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76102734
chr5:76102766 A
A
 G
G
 12 a0001c0001t0007g0122
a0001c0001t0022g0214
a0001c0001t0032g0004
others(9): Show 
a0001c0001t0007g0122
a0001c0001t0022g0214
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0002t0025g0232
a0001c0002t0142g0001
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0005t0019g0060
 12 HG00423.hp2
HG01943.hp1
HG02056.hp2
others(9): Show 
HG00423.hp2
HG01943.hp1
HG02056.hp2
HG02083.hp1
HG02486.hp2
HG02523.hp1
HG02809.hp1
NA18952.hp1
NA19060.hp2
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-102+19254A>G
c.-102+19254A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76102766
chr5:76102802 C
C
 T
T
 10 a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
others(7): Show 
a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
 10 HG02486.hp1
HG02572.hp1
HG02895.hp1
others(7): Show 
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-102+19290C>T
c.-102+19290C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76102802
chr5:76102803 G
G
 A
A
 5 a0001c0001t0002g0094
a0001c0001t0117g0012
a0001c0001t0122g0011
others(2): Show 
a0001c0001t0002g0094
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
 5 HG01884.hp2
HG02145.hp1
HG02258.hp2
others(2): Show 
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG03041.hp1
HG03195.hp2
 intron_variant MODIFIER c.-102+19291G>A
c.-102+19291G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76102803
chr5:76102913 T
T
 C
C
 45 a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
others(42): Show 
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0090g0106
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0013t0014g0119
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0006t0094g0142
a0003c0004t0091g0107
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 45 HG00558.hp2
HG00642.hp1
HG00735.hp1
others(42): Show 
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp2
HG02698.hp1
HG02735.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+19401T>C
c.-102+19401T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76102913
chr5:76103230 C
C
 A
A
 1 a0001c0001t0047g0046
a0001c0001t0047g0046
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-102+19718C>A
c.-102+19718C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76103230
chr5:76103253 G
G
 C
C
 1 a0001c0002t0154g0197
a0001c0002t0154g0197
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.-102+19741G>C
c.-102+19741G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76103253
chr5:76103324 C
C
 T
T
 1 a0002c0003t0026g0230
a0002c0003t0026g0230
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.-102+19812C>T
c.-102+19812C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76103324
chr5:76103578 G
G
 T
T
 15 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
others(12): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0087g0021
a0003c0004t0026g0147
a0003c0004t0069g0022
 15 HG01891.hp1
HG02109.hp1
HG02486.hp1
others(12): Show 
HG01891.hp1
HG02109.hp1
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp2
HG03471.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-102+20066G>T
c.-102+20066G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76103578
chr5:76103614 G
G
 T
T
 1 a0003c0004t0120g0005
a0003c0004t0120g0005
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.-102+20102G>T
c.-102+20102G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76103614
chr5:76103673 C
C
 T
T
 1 a0001c0002t0145g0189
a0001c0002t0145g0189
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.-102+20161C>T
c.-102+20161C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76103673
chr5:76103726 C
C
 T
T
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 4 HG02083.hp1
HG02523.hp1
NA19083.hp2
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-102+20214C>T
c.-102+20214C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76103726
chr5:76103912 A
A
 G
G
 18 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(15): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0082g0220
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
 18 HG00642.hp2
HG00733.hp1
HG01109.hp1
others(15): Show 
HG00642.hp2
HG00733.hp1
HG01109.hp1
HG01243.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.-102+20400A>G
c.-102+20400A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76103912
chr5:76104043 A
A
 C
C
 4 a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0123g0002
others(1): Show 
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0123g0002
a0001c0002t0142g0001
 4 HG00423.hp2
HG02056.hp2
NA18952.hp1
others(1): Show 
HG00423.hp2
HG02056.hp2
NA18952.hp1
NA19060.hp2
 intron_variant MODIFIER c.-102+20531A>C
c.-102+20531A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76104043
chr5:76104058 A
A
 T
T
 44 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
others(41): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0026g0147
a0003c0004t0069g0022
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 44 HG00642.hp2
HG00733.hp1
HG00741.hp2
others(41): Show 
HG00642.hp2
HG00733.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-102+20546A>T
c.-102+20546A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76104058
chr5:76104120 G
G
 A
A
 4 a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
others(1): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
a0003c0004t0069g0022
 4 HG01891.hp1
HG02109.hp1
HG03471.hp2
others(1): Show 
HG01891.hp1
HG02109.hp1
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.-102+20608G>A
c.-102+20608G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76104120
chr5:76104122 G
G
 T
T
 1 a0002c0003t0119g0187
a0002c0003t0119g0187
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.-102+20610G>T
c.-102+20610G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76104122
chr5:76104152 A
A
 T
T
 1 a0001c0001t0004g0080
a0001c0001t0004g0080
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.-102+20640A>T
c.-102+20640A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76104152
chr5:76104196 G
G
 A
A
 107 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(104): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 107 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(104): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-102+20684G>A
c.-102+20684G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76104196
chr5:76104227 G
G
 C
C
 157 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(154): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 157 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(154): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+20715G>C
c.-102+20715G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76104227
chr5:76104229 C
C
 T
T
 2 a0001c0001t0042g0072
a0003c0004t0057g0071
a0001c0001t0042g0072
a0003c0004t0057g0071
 2 HG01884.hp1
HG03195.hp1
HG01884.hp1
HG03195.hp1
 intron_variant MODIFIER c.-102+20717C>T
c.-102+20717C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76104229
chr5:76104642 C
C
 G
G
 211 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(208): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0145g0189
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 211 HG00140.hp2
HG00280.hp2
HG00423.hp1
others(208): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+21130C>G
c.-102+21130C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76104642
chr5:76104658 T
T
 C
C
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 4 HG02083.hp1
HG02523.hp1
NA19083.hp2
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-102+21146T>C
c.-102+21146T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76104658
chr5:76104672 A
A
 G
G
 9 a0001c0001t0001g0057
a0001c0001t0011g0056
a0001c0001t0018g0067
others(6): Show 
a0001c0001t0001g0057
a0001c0001t0011g0056
a0001c0001t0018g0067
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0002c0003t0059g0043
a0002c0006t0062g0068
a0003c0004t0038g0066
 9 HG02015.hp2
HG02056.hp1
NA18951.hp2
others(6): Show 
HG02015.hp2
HG02056.hp1
NA18951.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp2
NA19056.hp1
NA19068.hp1
 intron_variant MODIFIER c.-102+21160A>G
c.-102+21160A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76104672
chr5:76104684 C
C
 T
T
 10 a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
others(7): Show 
a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
 10 HG02486.hp1
HG02572.hp1
HG02895.hp1
others(7): Show 
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-102+21172C>T
c.-102+21172C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76104684
chr5:76104996 A
A
 G
G
 1 a0001c0002t0015g0121
a0001c0002t0015g0121
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.-102+21484A>G
c.-102+21484A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76104996
chr5:76105689 A
A
 C
C
 4 a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0123g0002
others(1): Show 
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0123g0002
a0001c0002t0142g0001
 4 HG00423.hp2
HG02056.hp2
NA18952.hp1
others(1): Show 
HG00423.hp2
HG02056.hp2
NA18952.hp1
NA19060.hp2
 intron_variant MODIFIER c.-102+22177A>C
c.-102+22177A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76105689
chr5:76105698 T
T
 A
A
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.-102+22186T>A
c.-102+22186T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76105698
chr5:76105702 C
C
 T
T
 82 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(79): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0004g0080
a0001c0001t0007g0093
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 82 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(79): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-102+22190C>T
c.-102+22190C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76105702
chr5:76105912 A
A
 G
G
 44 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
others(41): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0026g0147
a0003c0004t0069g0022
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 44 HG00642.hp2
HG00733.hp1
HG00741.hp2
others(41): Show 
HG00642.hp2
HG00733.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA18906.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-102+22400A>G
c.-102+22400A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76105912
chr5:76106176 C
C
 T
T
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.-102+22664C>T
c.-102+22664C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76106176
chr5:76106210 G
G
 A
A
 4 a0001c0002t0029g0141
a0001c0002t0104g0020
a0001c0002t0110g0124
others(1): Show 
a0001c0002t0029g0141
a0001c0002t0104g0020
a0001c0002t0110g0124
a0003c0005t0116g0126
 4 HG01255.hp1
HG01361.hp1
HG02145.hp2
others(1): Show 
HG01255.hp1
HG01361.hp1
HG02145.hp2
NA20129.hp1
 intron_variant MODIFIER c.-102+22698G>A
c.-102+22698G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76106210
chr5:76106406 T
T
 A
A
 1 a0001c0002t0029g0146
a0001c0002t0029g0146
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.-102+22894T>A
c.-102+22894T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76106406
chr5:76106485 C
C
 T
T
 14 a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0013g0085
others(11): Show 
a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0141g0013
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0009g0017
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0139g0016
 14 HG02055.hp2
HG02257.hp2
HG02615.hp2
others(11): Show 
HG02055.hp2
HG02257.hp2
HG02615.hp2
HG02630.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG03098.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp1
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.-102+22973C>T
c.-102+22973C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76106485
chr5:76106576 T
T
 C
C
 2 a0001c0002t0150g0191
a0002c0006t0147g0195
a0001c0002t0150g0191
a0002c0006t0147g0195
 2 HG01168.hp1
HG01496.hp1
HG01168.hp1
HG01496.hp1
 intron_variant MODIFIER c.-102+23064T>C
c.-102+23064T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76106576
chr5:76106615 C
C
 A
A
 1 a0001c0001t0088g0123
a0001c0001t0088g0123
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.-102+23103C>A
c.-102+23103C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76106615
chr5:76106707 C
C
 T
T
 23 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
others(20): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0009t0076g0213
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0019g0145
 23 HG00642.hp2
HG00733.hp1
HG01109.hp1
others(20): Show 
HG00642.hp2
HG00733.hp1
HG01109.hp1
HG01243.hp1
HG02055.hp1
HG02083.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03139.hp1
HG03209.hp1
NA18522.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-102+23195C>T
c.-102+23195C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76106707
chr5:76106775 A
A
 G
G
 7 a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0002c0003t0086g0088
a0002c0006t0095g0091
 7 HG02486.hp2
HG02572.hp2
HG02615.hp1
others(4): Show 
HG02486.hp2
HG02572.hp2
HG02615.hp1
HG02717.hp1
HG02896.hp2
HG03041.hp2
NA21309.hp2
 intron_variant MODIFIER c.-102+23263A>G
c.-102+23263A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76106775
chr5:76106810 C
C
 G
G
 58 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(55): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0008g0104
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0005t0019g0060
 58 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(55): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-102+23298C>G
c.-102+23298C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76106810
chr5:76107017 A
A
 G
G
 157 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(154): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 157 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(154): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-102+23505A>G
c.-102+23505A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76107017
chr5:76107115 A
A
 G
G
 58 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(55): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0008g0104
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0005t0019g0060
 58 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(55): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-102+23603A>G
c.-102+23603A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76107115
chr5:76107379 G
G
 A
A
 57 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(54): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0008g0104
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 57 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(54): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-102+23867G>A
c.-102+23867G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76107379
chr5:76107439 C
C
 T
T
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-102+23927C>T
c.-102+23927C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76107439
chr5:76107566 A
A
 G
G
 108 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(105): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 108 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(105): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-102+24054A>G
c.-102+24054A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76107566
chr5:76107628 C
C
 T
T
 7 a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0002c0003t0086g0088
a0002c0006t0095g0091
 7 HG02486.hp2
HG02572.hp2
HG02615.hp1
others(4): Show 
HG02486.hp2
HG02572.hp2
HG02615.hp1
HG02717.hp1
HG02896.hp2
HG03041.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-24022C>T
c.-101-24022C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76107628
chr5:76107795 G
G
 A
A
 1 a0001c0001t0008g0127
a0001c0001t0008g0127
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.-101-23855G>A
c.-101-23855G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76107795
chr5:76107930 G
G
 A
A
 1 a0001c0001t0135g0198
a0001c0001t0135g0198
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.-101-23720G>A
c.-101-23720G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76107930
chr5:76108156 G
G
 A
A
 1 a0003c0004t0039g0062
a0003c0004t0039g0062
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.-101-23494G>A
c.-101-23494G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76108156
chr5:76108312 A
A
 C
C
 109 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(106): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0019g0060
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 109 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(106): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-23338A>C
c.-101-23338A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76108312
chr5:76108351 G
G
 A
A
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.-101-23299G>A
c.-101-23299G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76108351
chr5:76108360 G
G
 A
A
 42 a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0023g0131
others(39): Show 
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0123g0002
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0013t0014g0119
a0002c0003t0072g0143
a0002c0006t0094g0142
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 42 HG00423.hp2
HG00642.hp1
HG01074.hp1
others(39): Show 
HG00423.hp2
HG00642.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp2
HG02015.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp2
HG02698.hp1
HG02735.hp1
HG02809.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19068.hp2
NA19079.hp2
NA19081.hp1
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-23290G>A
c.-101-23290G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76108360
chr5:76108576 G
G
 GGGGA
GGGGA
 109 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(106): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0019g0060
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 109 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(106): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-23072_-101-23
others(10): Show 
c.-101-23072_-101-23069dupGGAG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76108576
chr5:76108625 G
G
 A
A
 4 a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
others(1): Show 
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
 4 HG01884.hp2
HG02145.hp1
HG02258.hp2
others(1): Show 
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG03041.hp1
 intron_variant MODIFIER c.-101-23025G>A
c.-101-23025G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76108625
chr5:76108842 C
C
 A
A
 1 a0001c0001t0088g0123
a0001c0001t0088g0123
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.-101-22808C>A
c.-101-22808C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76108842
chr5:76108930 G
G
 A
A
 57 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(54): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0008g0104
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 57 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(54): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-22720G>A
c.-101-22720G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76108930
chr5:76109212 A
A
 G
G
 42 a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0023g0131
others(39): Show 
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0123g0002
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0013t0014g0119
a0002c0003t0072g0143
a0002c0006t0094g0142
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 42 HG00423.hp2
HG00642.hp1
HG01074.hp1
others(39): Show 
HG00423.hp2
HG00642.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp2
HG02015.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp2
HG02698.hp1
HG02735.hp1
HG02809.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19068.hp2
NA19079.hp2
NA19081.hp1
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-22438A>G
c.-101-22438A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76109212
chr5:76109267 TGCAAAGG
TGCAAAGG
 T
T
 6 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(3): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 6 HG02615.hp2
HG02886.hp1
HG02895.hp2
others(3): Show 
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-101-22380_-101-22
others(13): Show 
c.-101-22380_-101-22374delAAAGGGC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76109267
chr5:76109432 A
A
 G
G
 10 a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
others(7): Show 
a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
 10 HG02486.hp1
HG02572.hp1
HG02895.hp1
others(7): Show 
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-22218A>G
c.-101-22218A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76109432
chr5:76109557 G
G
 A
A
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 4 HG02083.hp1
HG02523.hp1
NA19083.hp2
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-101-22093G>A
c.-101-22093G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76109557
chr5:76109830 A
A
 T
T
 19 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(16): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0082g0220
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
 19 HG00642.hp2
HG00733.hp1
HG01109.hp1
others(16): Show 
HG00642.hp2
HG00733.hp1
HG01109.hp1
HG01243.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.-101-21820A>T
c.-101-21820A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76109830
chr5:76109958 C
C
 T
T
 1 a0001c0001t0141g0013
a0001c0001t0141g0013
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.-101-21692C>T
c.-101-21692C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76109958
chr5:76110230 G
G
 A
A
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-101-21420G>A
c.-101-21420G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76110230
chr5:76110268 A
A
 T
T
 65 a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
others(62): Show 
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0065g0233
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0006t0094g0142
a0003c0004t0009g0017
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 65 HG00423.hp2
HG00558.hp2
HG00642.hp1
others(62): Show 
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01884.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02602.hp2
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG03041.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-21382A>T
c.-101-21382A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76110268
chr5:76110519 T
T
 C
C
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-101-21131T>C
c.-101-21131T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76110519
chr5:76110520 C
C
 T
T
 50 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(47): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0005t0019g0060
 50 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(47): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-21130C>T
c.-101-21130C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76110520
chr5:76110545 G
G
 A
A
 4 a0001c0002t0006g0192
a0001c0002t0150g0191
a0002c0006t0147g0195
others(1): Show 
a0001c0002t0006g0192
a0001c0002t0150g0191
a0002c0006t0147g0195
a0003c0005t0156g0193
 4 HG00280.hp1
HG00738.hp1
HG01168.hp1
others(1): Show 
HG00280.hp1
HG00738.hp1
HG01168.hp1
HG01496.hp1
 intron_variant MODIFIER c.-101-21105G>A
c.-101-21105G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76110545
chr5:76110549 G
G
 A
A
 1 a0002c0003t0044g0074
a0002c0003t0044g0074
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-101-21101G>A
c.-101-21101G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76110549
chr5:76110675 C
C
 T
T
 1 a0001c0001t0088g0123
a0001c0001t0088g0123
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.-101-20975C>T
c.-101-20975C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76110675
chr5:76110709 G
G
 A
A
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.-101-20941G>A
c.-101-20941G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76110709
chr5:76110882 A
A
 G
G
 14 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(11): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0087g0021
a0003c0004t0026g0147
a0003c0004t0069g0022
 14 HG01891.hp1
HG02109.hp1
HG02486.hp1
others(11): Show 
HG01891.hp1
HG02109.hp1
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-20768A>G
c.-101-20768A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76110882
chr5:76111117 T
T
 C
C
 1 a0001c0002t0151g0151
a0001c0002t0151g0151
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.-101-20533T>C
c.-101-20533T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76111117
chr5:76111183 G
G
 A
A
 5 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0088g0123
others(2): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0088g0123
a0002c0003t0087g0021
a0003c0004t0069g0022
 5 HG01891.hp1
HG02109.hp1
HG02451.hp2
others(2): Show 
HG01891.hp1
HG02109.hp1
HG02451.hp2
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.-101-20467G>A
c.-101-20467G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76111183
chr5:76111201 A
A
 G
G
 2 a0001c0001t0009g0008
a0001c0001t0125g0007
a0001c0001t0009g0008
a0001c0001t0125g0007
 2 HG02257.hp2
HG02630.hp2
HG02257.hp2
HG02630.hp2
 intron_variant MODIFIER c.-101-20449A>G
c.-101-20449A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76111201
chr5:76111299 T
T
 C
C
 49 a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
others(46): Show 
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0090g0106
a0001c0001t0123g0002
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0013t0014g0119
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0006t0094g0142
a0003c0004t0091g0107
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 49 HG00423.hp2
HG00558.hp2
HG00642.hp1
others(46): Show 
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02698.hp1
HG02735.hp1
HG02809.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-20351T>C
c.-101-20351T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76111299
chr5:76111355 T
T
 C
C
 11 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0012g0083
others(8): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0088g0123
a0001c0015t0079g0087
a0002c0003t0080g0084
a0002c0003t0087g0021
a0003c0004t0066g0086
a0003c0004t0069g0022
 11 HG01891.hp1
HG02109.hp1
HG02451.hp2
others(8): Show 
HG01891.hp1
HG02109.hp1
HG02451.hp2
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
NA18906.hp1
 intron_variant MODIFIER c.-101-20295T>C
c.-101-20295T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76111355
chr5:76111556 T
T
 C
C
 55 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(52): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0007g0122
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0086g0088
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0005t0019g0060
 55 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(52): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02896.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-20094T>C
c.-101-20094T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76111556
chr5:76111606 G
G
 A
A
 5 a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
others(2): Show 
a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0002c0003t0086g0088
 5 HG02486.hp2
HG02572.hp2
HG02717.hp1
others(2): Show 
HG02486.hp2
HG02572.hp2
HG02717.hp1
HG02896.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-20044G>A
c.-101-20044G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76111606
chr5:76111666 C
C
 A
A
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.-101-19984C>A
c.-101-19984C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76111666
chr5:76111726 C
C
 T
T
 44 a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
others(41): Show 
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0090g0106
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0013t0014g0119
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0006t0094g0142
a0003c0004t0091g0107
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 44 HG00558.hp2
HG00642.hp1
HG00735.hp1
others(41): Show 
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02698.hp1
HG02735.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-19924C>T
c.-101-19924C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76111726
chr5:76111766 T
T
 G
G
 10 a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
others(7): Show 
a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
 10 HG02486.hp1
HG02572.hp1
HG02895.hp1
others(7): Show 
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-19884T>G
c.-101-19884T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76111766
chr5:76111842 A
A
 G
G
 101 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(98): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 101 HG00280.hp2
HG00423.hp1
HG00642.hp2
others(98): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-19808A>G
c.-101-19808A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76111842
chr5:76111949 T
T
 C
C
 1 a0001c0001t0088g0123
a0001c0001t0088g0123
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.-101-19701T>C
c.-101-19701T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76111949
chr5:76112252 G
G
 A
A
 1 a0001c0002t0098g0113
a0001c0002t0098g0113
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.-101-19398G>A
c.-101-19398G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76112252
chr5:76112395 G
G
 A
A
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-19255G>A
c.-101-19255G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76112395
chr5:76112410 T
T
 C
C
 173 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(170): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 173 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(170): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-19240T>C
c.-101-19240T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76112410
chr5:76112501 G
G
 A
A
 4 a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
others(1): Show 
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0002c0003t0086g0088
 4 HG02572.hp2
HG02717.hp1
HG02896.hp2
others(1): Show 
HG02572.hp2
HG02717.hp1
HG02896.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-19149G>A
c.-101-19149G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76112501
chr5:76112692 G
G
 A
A
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 4 HG02083.hp1
HG02523.hp1
NA19083.hp2
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-101-18958G>A
c.-101-18958G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76112692
chr5:76112738 C
C
 T
T
 1 a0001c0013t0014g0119
a0001c0013t0014g0119
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.-101-18912C>T
c.-101-18912C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76112738
chr5:76112924 G
G
 T
T
 4 a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
others(1): Show 
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0003c0004t0026g0147
 4 HG02572.hp1
HG02895.hp1
HG03130.hp2
others(1): Show 
HG02572.hp1
HG02895.hp1
HG03130.hp2
NA19030.hp2
 intron_variant MODIFIER c.-101-18726G>T
c.-101-18726G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76112924
chr5:76112986 G
G
 A
A
 1 a0001c0002t0006g0174
a0001c0002t0006g0174
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.-101-18664G>A
c.-101-18664G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76112986
chr5:76113083 C
C
 T
T
 12 a0001c0001t0031g0179
a0001c0001t0068g0092
a0001c0001t0073g0089
others(9): Show 
a0001c0001t0031g0179
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0002t0006g0177
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0146g0175
a0001c0002t0152g0199
a0001c0002t0153g0200
a0002c0003t0086g0088
a0007c0014t0005g0180
 12 HG00733.hp2
HG01123.hp2
HG01256.hp1
others(9): Show 
HG00733.hp2
HG01123.hp2
HG01256.hp1
HG01258.hp2
HG02257.hp1
HG02572.hp2
HG02717.hp1
HG02896.hp2
HG03834.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-18567C>T
c.-101-18567C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76113083
chr5:76113195 G
G
 A
A
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-18455G>A
c.-101-18455G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76113195
chr5:76113289 G
G
 T
T
 1 a0001c0001t0003g0098
a0001c0001t0003g0098
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.-101-18361G>T
c.-101-18361G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76113289
chr5:76113728 C
C
 A
A
 57 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(54): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0142g0001
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0120g0005
 57 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(54): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02257.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-17922C>A
c.-101-17922C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76113728
chr5:76113810 G
G
 A
A
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.-101-17840G>A
c.-101-17840G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76113810
chr5:76113921 T
T
 TAC
TAC
 2 a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0013g0082
a0001c0002t0089g0081
 2 HG03130.hp2
NA19030.hp2
HG03130.hp2
NA19030.hp2
 intron_variant MODIFIER c.-101-17711_-101-17
others(8): Show 
c.-101-17711_-101-17710dupCA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76113921
chr5:76113921 TAC
TAC
 T
T
 19 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(16): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 19 HG00741.hp2
HG01106.hp1
HG02055.hp2
others(16): Show 
HG00741.hp2
HG01106.hp1
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-17711_-101-17
others(8): Show 
c.-101-17711_-101-17710delCA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76113921
chr5:76113993 G
G
 A
A
 48 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
others(45): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 48 HG00642.hp2
HG00733.hp1
HG00741.hp2
others(45): Show 
HG00642.hp2
HG00733.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02083.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-17657G>A
c.-101-17657G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76113993
chr5:76114075 C
C
 T
T
 4 a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
others(1): Show 
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0002c0003t0086g0088
 4 HG02572.hp2
HG02717.hp1
HG02896.hp2
others(1): Show 
HG02572.hp2
HG02717.hp1
HG02896.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-17575C>T
c.-101-17575C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76114075
chr5:76114161 C
C
 T
T
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.-101-17489C>T
c.-101-17489C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76114161
chr5:76114166 G
G
 A
A
 1 a0003c0004t0120g0005
a0003c0004t0120g0005
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.-101-17484G>A
c.-101-17484G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76114166
chr5:76114170 A
A
 G
G
 48 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
others(45): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 48 HG00642.hp2
HG00733.hp1
HG00741.hp2
others(45): Show 
HG00642.hp2
HG00733.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02083.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-17480A>G
c.-101-17480A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76114170
chr5:76114334 A
A
 G
G
 1 a0003c0004t0019g0145
a0003c0004t0019g0145
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.-101-17316A>G
c.-101-17316A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76114334
chr5:76114469 T
T
 A
A
 1 a0001c0002t0037g0194
a0001c0002t0037g0194
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.-101-17181T>A
c.-101-17181T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76114469
chr5:76114485 T
T
 C
C
 3 a0001c0001t0002g0224
a0001c0001t0012g0223
a0002c0008t0007g0225
a0001c0001t0002g0224
a0001c0001t0012g0223
a0002c0008t0007g0225
 3 HG02451.hp1
HG02559.hp1
HG02647.hp1
HG02451.hp1
HG02559.hp1
HG02647.hp1
 intron_variant MODIFIER c.-101-17165T>C
c.-101-17165T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76114485
chr5:76114535 T
T
 A
A
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-17115T>A
c.-101-17115T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76114535
chr5:76114541 C
C
 T
T
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-17109C>T
c.-101-17109C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76114541
chr5:76114686 G
G
 A
A
 49 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(46): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
 49 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(46): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-16964G>A
c.-101-16964G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76114686
chr5:76114690 A
A
 G
G
 2 a0001c0001t0009g0008
a0001c0001t0125g0007
a0001c0001t0009g0008
a0001c0001t0125g0007
 2 HG02257.hp2
HG02630.hp2
HG02257.hp2
HG02630.hp2
 intron_variant MODIFIER c.-101-16960A>G
c.-101-16960A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76114690
chr5:76114774 C
C
 T
T
 2 a0001c0001t0002g0094
a0003c0004t0019g0145
a0001c0001t0002g0094
a0003c0004t0019g0145
 2 HG03195.hp2
NA19081.hp2
HG03195.hp2
NA19081.hp2
 intron_variant MODIFIER c.-101-16876C>T
c.-101-16876C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76114774
chr5:76114806 C
C
 A
A
 194 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(191): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0146g0175
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 194 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(191): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-16844C>A
c.-101-16844C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76114806
chr5:76114886 C
C
 A
A
 2 a0001c0001t0009g0008
a0001c0001t0125g0007
a0001c0001t0009g0008
a0001c0001t0125g0007
 2 HG02257.hp2
HG02630.hp2
HG02257.hp2
HG02630.hp2
 intron_variant MODIFIER c.-101-16764C>A
c.-101-16764C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76114886
chr5:76115073 A
A
 G
G
 62 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(59): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0082g0220
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
 62 HG00423.hp1
HG00642.hp2
HG00733.hp1
others(59): Show 
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG01074.hp2
HG01109.hp1
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-16577A>G
c.-101-16577A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76115073
chr5:76115097 T
T
 C
C
 9 a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
others(6): Show 
a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0002c0003t0086g0088
a0003c0004t0026g0147
 9 HG02486.hp2
HG02572.hp1
HG02572.hp2
others(6): Show 
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02717.hp1
HG02895.hp1
HG02896.hp2
HG03130.hp2
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-16553T>C
c.-101-16553T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76115097
chr5:76115171 G
G
 A
A
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-16479G>A
c.-101-16479G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76115171
chr5:76115195 A
A
 C
C
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-16455A>C
c.-101-16455A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76115195
chr5:76115265 C
C
 T
T
 6 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(3): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 6 HG02615.hp2
HG02886.hp1
HG02895.hp2
others(3): Show 
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-101-16385C>T
c.-101-16385C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76115265
chr5:76115345 C
C
 T
T
 1 a0001c0001t0135g0198
a0001c0001t0135g0198
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.-101-16305C>T
c.-101-16305C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76115345
chr5:76115569 C
C
 T
T
 1 a0001c0002t0102g0234
a0001c0002t0102g0234
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.-101-16081C>T
c.-101-16081C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76115569
chr5:76115756 T
T
 G
G
 2 a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0152g0199
a0001c0002t0153g0200
 2 HG01256.hp1
HG01258.hp2
HG01256.hp1
HG01258.hp2
 intron_variant MODIFIER c.-101-15894T>G
c.-101-15894T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76115756
chr5:76115979 C
C
 T
T
 53 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(50): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0120g0005
 53 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(50): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02257.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-15671C>T
c.-101-15671C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76115979
chr5:76116025 A
A
 G
G
 1 a0001c0001t0033g0003
a0001c0001t0033g0003
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.-101-15625A>G
c.-101-15625A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76116025
chr5:76116223 CCTTATTT
others(4): Show 
CCTTATTTTTAT
 C
C
 1 a0001c0002t0101g0144
a0001c0002t0101g0144
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.-101-15424_-101-15
others(17): Show 
c.-101-15424_-101-15414delTATTTTTATCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76116223
chr5:76116247 C
C
 T
T
 2 a0001c0001t0002g0094
a0003c0004t0019g0145
a0001c0001t0002g0094
a0003c0004t0019g0145
 2 HG03195.hp2
NA19081.hp2
HG03195.hp2
NA19081.hp2
 intron_variant MODIFIER c.-101-15403C>T
c.-101-15403C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76116247
chr5:76116304 G
G
 A
A
 81 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(78): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0120g0005
 81 HG00280.hp2
HG00423.hp1
HG00642.hp2
others(78): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-15346G>A
c.-101-15346G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76116304
chr5:76116412 G
G
 A
A
 89 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(86): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0120g0005
 89 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(86): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-15238G>A
c.-101-15238G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76116412
chr5:76116466 C
C
 G
G
 5 a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
others(2): Show 
a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0002c0003t0086g0088
 5 HG02486.hp2
HG02572.hp2
HG02717.hp1
others(2): Show 
HG02486.hp2
HG02572.hp2
HG02717.hp1
HG02896.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-15184C>G
c.-101-15184C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76116466
chr5:76116593 C
C
 T
T
 77 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(74): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0120g0005
 77 HG00280.hp2
HG00423.hp1
HG00642.hp2
others(74): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-15057C>T
c.-101-15057C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76116593
chr5:76116597 C
C
 G
G
 11 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0012g0083
others(8): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0088g0123
a0001c0015t0079g0087
a0002c0003t0080g0084
a0002c0003t0087g0021
a0003c0004t0066g0086
a0003c0004t0069g0022
 11 HG01891.hp1
HG02109.hp1
HG02451.hp2
others(8): Show 
HG01891.hp1
HG02109.hp1
HG02451.hp2
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
NA18906.hp1
 intron_variant MODIFIER c.-101-15053C>G
c.-101-15053C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76116597
chr5:76116666 A
A
 G
G
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 4 HG02083.hp1
HG02523.hp1
NA19083.hp2
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-101-14984A>G
c.-101-14984A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76116666
chr5:76116706 G
G
 A
A
 1 a0001c0002t0148g0158
a0001c0002t0148g0158
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.-101-14944G>A
c.-101-14944G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76116706
chr5:76116828 G
G
 A
A
 23 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(20): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0092g0211
a0001c0009t0076g0213
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
 23 HG00642.hp2
HG00733.hp1
HG01109.hp1
others(20): Show 
HG00642.hp2
HG00733.hp1
HG01109.hp1
HG02055.hp1
HG02083.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
NA18522.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-101-14822G>A
c.-101-14822G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76116828
chr5:76116939 T
T
 G
G
 1 a0001c0002t0097g0114
a0001c0002t0097g0114
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.-101-14711T>G
c.-101-14711T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76116939
chr5:76117038 T
T
 C
C
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-14612T>C
c.-101-14612T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76117038
chr5:76117068 C
C
 T
T
 19 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(16): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0082g0220
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
 19 HG00642.hp2
HG00733.hp1
HG01109.hp1
others(16): Show 
HG00642.hp2
HG00733.hp1
HG01109.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
NA18522.hp1
NA19081.hp2
 intron_variant MODIFIER c.-101-14582C>T
c.-101-14582C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76117068
chr5:76117087 C
C
 G
G
 5 a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
others(2): Show 
a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0002c0003t0086g0088
 5 HG02486.hp2
HG02572.hp2
HG02717.hp1
others(2): Show 
HG02486.hp2
HG02572.hp2
HG02717.hp1
HG02896.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-14563C>G
c.-101-14563C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76117087
chr5:76117178 G
G
 T
T
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 4 HG02083.hp1
HG02523.hp1
NA19083.hp2
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-101-14472G>T
c.-101-14472G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76117178
chr5:76117179 A
A
 C
C
 10 a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
others(7): Show 
a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
 10 HG02486.hp1
HG02572.hp1
HG02895.hp1
others(7): Show 
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-14471A>C
c.-101-14471A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76117179
chr5:76117212 A
A
 G
G
 4 a0001c0001t0003g0185
a0001c0009t0031g0184
a0001c0009t0134g0182
others(1): Show 
a0001c0001t0003g0185
a0001c0009t0031g0184
a0001c0009t0134g0182
a0002c0003t0124g0183
 4 HG01361.hp2
HG01433.hp1
HG01928.hp2
others(1): Show 
HG01361.hp2
HG01433.hp1
HG01928.hp2
HG01943.hp2
 intron_variant MODIFIER c.-101-14438A>G
c.-101-14438A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76117212
chr5:76117242 A
A
 G
G
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-14408A>G
c.-101-14408A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76117242
chr5:76117400 C
C
 T
T
 4 a0001c0001t0009g0008
a0001c0001t0125g0007
a0001c0001t0128g0006
others(1): Show 
a0001c0001t0009g0008
a0001c0001t0125g0007
a0001c0001t0128g0006
a0003c0004t0120g0005
 4 HG02257.hp2
HG02630.hp2
HG03098.hp2
others(1): Show 
HG02257.hp2
HG02630.hp2
HG03098.hp2
HG03130.hp1
 intron_variant MODIFIER c.-101-14250C>T
c.-101-14250C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76117400
chr5:76117461 A
A
 G
G
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-14189A>G
c.-101-14189A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76117461
chr5:76117713 T
T
 TA
TA
 28 a0001c0001t0004g0080
a0001c0001t0022g0214
a0001c0001t0074g0208
others(25): Show 
a0001c0001t0004g0080
a0001c0001t0022g0214
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0092g0211
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 28 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(25): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02083.hp1
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19083.hp2
NA19088.hp1
NA19240.hp2
 intron_variant MODIFIER c.-101-13928dupA
c.-101-13928dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76117713
chr5:76117791 C
C
 T
T
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-13859C>T
c.-101-13859C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76117791
chr5:76117825 G
G
 T
T
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-13825G>T
c.-101-13825G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76117825
chr5:76117862 A
A
 G
G
 1 a0003c0004t0019g0145
a0003c0004t0019g0145
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.-101-13788A>G
c.-101-13788A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76117862
chr5:76118096 C
C
 G
G
 2 a0001c0001t0082g0220
a0002c0008t0002g0221
a0001c0001t0082g0220
a0002c0008t0002g0221
 2 HG02559.hp2
HG02818.hp1
HG02559.hp2
HG02818.hp1
 intron_variant MODIFIER c.-101-13554C>G
c.-101-13554C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76118096
chr5:76118125 C
C
 T
T
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-13525C>T
c.-101-13525C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76118125
chr5:76118151 C
C
 T
T
 1 a0002c0003t0129g0188
a0002c0003t0129g0188
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.-101-13499C>T
c.-101-13499C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76118151
chr5:76118339 C
C
 T
T
 1 a0002c0003t0033g0169
a0002c0003t0033g0169
 1 NA18968.hp2
NA18968.hp2
 intron_variant MODIFIER c.-101-13311C>T
c.-101-13311C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76118339
chr5:76118416 A
A
 T
T
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 4 HG02083.hp1
HG02523.hp1
NA19083.hp2
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-101-13234A>T
c.-101-13234A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76118416
chr5:76118613 G
G
 A
A
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-13037G>A
c.-101-13037G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76118613
chr5:76118682 AT
AT
 A
A
 10 a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
others(7): Show 
a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
 10 HG02486.hp1
HG02572.hp1
HG02895.hp1
others(7): Show 
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-12966delT
c.-101-12966delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76118682
chr5:76118684 T
T
 A
A
 14 a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
others(11): Show 
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 14 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(11): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.-101-12966T>A
c.-101-12966T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76118684
chr5:76118692 T
T
 A
A
 10 a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
others(7): Show 
a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
 10 HG02486.hp1
HG02572.hp1
HG02895.hp1
others(7): Show 
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-12958T>A
c.-101-12958T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76118692
chr5:76118774 G
G
 C
C
 1 a0001c0001t0122g0011
a0001c0001t0122g0011
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-101-12876G>C
c.-101-12876G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76118774
chr5:76118797 T
T
 C
C
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-12853T>C
c.-101-12853T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76118797
chr5:76118803 G
G
 A
A
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-101-12847G>A
c.-101-12847G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76118803
chr5:76118938 G
G
 A
A
 6 a0001c0001t0004g0080
a0001c0007t0004g0075
a0001c0007t0004g0077
others(3): Show 
a0001c0001t0004g0080
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
 6 HG02486.hp1
HG02965.hp1
HG03098.hp1
others(3): Show 
HG02486.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-12712G>A
c.-101-12712G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76118938
chr5:76119014 T
T
 C
C
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-101-12636T>C
c.-101-12636T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76119014
chr5:76119115 C
C
 T
T
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-12535C>T
c.-101-12535C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76119115
chr5:76119156 T
T
 C
C
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-12494T>C
c.-101-12494T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76119156
chr5:76119167 T
T
 C
C
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-12483T>C
c.-101-12483T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76119167
chr5:76119363 A
A
 G
G
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.-101-12287A>G
c.-101-12287A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76119363
chr5:76119373 GA
GA
 G
G
 4 a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
others(1): Show 
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
 4 HG01884.hp2
HG02145.hp1
HG02258.hp2
others(1): Show 
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG03041.hp1
 intron_variant MODIFIER c.-101-12272delA
c.-101-12272delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76119373
chr5:76119392 A
A
 G
G
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-12258A>G
c.-101-12258A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76119392
chr5:76119493 T
T
 C
C
 61 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(58): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0008g0104
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 61 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(58): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-12157T>C
c.-101-12157T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76119493
chr5:76119504 C
C
 G
G
 1 a0003c0005t0019g0060
a0003c0005t0019g0060
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.-101-12146C>G
c.-101-12146C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76119504
chr5:76119566 C
C
 T
T
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-12084C>T
c.-101-12084C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76119566
chr5:76119584 T
T
 G
G
 10 a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
others(7): Show 
a0001c0001t0004g0080
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
 10 HG02486.hp1
HG02572.hp1
HG02895.hp1
others(7): Show 
HG02486.hp1
HG02572.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-12066T>G
c.-101-12066T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76119584
chr5:76119847 T
T
 A
A
 2 a0001c0001t0002g0094
a0003c0004t0019g0145
a0001c0001t0002g0094
a0003c0004t0019g0145
 2 HG03195.hp2
NA19081.hp2
HG03195.hp2
NA19081.hp2
 intron_variant MODIFIER c.-101-11803T>A
c.-101-11803T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76119847
chr5:76119867 C
C
 T
T
 1 a0003c0005t0030g0118
a0003c0005t0030g0118
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.-101-11783C>T
c.-101-11783C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76119867
chr5:76120013 T
T
 G
G
 78 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(75): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 78 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(75): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-11637T>G
c.-101-11637T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120013
chr5:76120145 T
T
 A
A
 2 a0001c0001t0126g0172
a0001c0001t0137g0159
a0001c0001t0126g0172
a0001c0001t0137g0159
 2 HG02300.hp1
HG02738.hp1
HG02300.hp1
HG02738.hp1
 intron_variant MODIFIER c.-101-11505T>A
c.-101-11505T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120145
chr5:76120157 A
A
 G
G
 1 a0002c0006t0063g0053
a0002c0006t0063g0053
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.-101-11493A>G
c.-101-11493A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120157
chr5:76120167 T
T
 C
C
 2 a0001c0001t0009g0008
a0001c0001t0125g0007
a0001c0001t0009g0008
a0001c0001t0125g0007
 2 HG02257.hp2
HG02630.hp2
HG02257.hp2
HG02630.hp2
 intron_variant MODIFIER c.-101-11483T>C
c.-101-11483T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120167
chr5:76120170 C
C
 G
G
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-11480C>G
c.-101-11480C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120170
chr5:76120229 A
A
 G
G
 173 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(170): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 173 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(170): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-11421A>G
c.-101-11421A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120229
chr5:76120284 C
C
 CT
CT
 176 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(173): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 176 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(173): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-11356dupT
c.-101-11356dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76120284
chr5:76120352 T
T
 C
C
 1 a0002c0003t0085g0215
a0002c0003t0085g0215
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.-101-11298T>C
c.-101-11298T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120352
chr5:76120408 G
G
 A
A
 49 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(46): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
 49 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(46): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19084.hp1
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-11242G>A
c.-101-11242G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120408
chr5:76120444 G
G
 C
C
 70 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(67): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
 70 HG00280.hp2
HG00423.hp1
HG00642.hp2
others(67): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-11206G>C
c.-101-11206G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120444
chr5:76120455 A
A
 G
G
 102 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(99): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0005t0019g0060
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 102 HG00280.hp2
HG00423.hp1
HG00642.hp2
others(99): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-11195A>G
c.-101-11195A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120455
chr5:76120491 G
G
 A
A
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-11159G>A
c.-101-11159G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120491
chr5:76120495 A
A
 C
C
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-11155A>C
c.-101-11155A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120495
chr5:76120499 C
C
 T
T
 105 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(102): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0120g0005
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 105 HG00280.hp2
HG00423.hp1
HG00642.hp2
others(102): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-11151C>T
c.-101-11151C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120499
chr5:76120501 G
G
 A
A
 105 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(102): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0120g0005
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 105 HG00280.hp2
HG00423.hp1
HG00642.hp2
others(102): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-11149G>A
c.-101-11149G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120501
chr5:76120519 C
C
 T
T
 1 a0001c0001t0088g0123
a0001c0001t0088g0123
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.-101-11131C>T
c.-101-11131C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120519
chr5:76120524 C
C
 A
A
 1 a0001c0001t0088g0123
a0001c0001t0088g0123
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.-101-11126C>A
c.-101-11126C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120524
chr5:76120750 C
C
 G
G
 14 a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
others(11): Show 
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 14 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(11): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.-101-10900C>G
c.-101-10900C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120750
chr5:76120769 A
A
 G
G
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-10881A>G
c.-101-10881A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120769
chr5:76120808 A
A
 T
T
 1 a0001c0001t0003g0167
a0001c0001t0003g0167
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.-101-10842A>T
c.-101-10842A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120808
chr5:76120827 T
T
 C
C
 17 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
others(14): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0082g0220
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 17 HG00642.hp2
HG00733.hp1
HG01109.hp1
others(14): Show 
HG00642.hp2
HG00733.hp1
HG01109.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.-101-10823T>C
c.-101-10823T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120827
chr5:76120851 G
G
 A
A
 107 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(104): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0120g0005
a0003c0004t0139g0016
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 107 HG00280.hp2
HG00423.hp1
HG00642.hp2
others(104): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-10799G>A
c.-101-10799G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120851
chr5:76120864 G
G
 A
A
 6 a0001c0001t0002g0094
a0001c0001t0068g0092
a0001c0001t0073g0089
others(3): Show 
a0001c0001t0002g0094
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0002c0003t0086g0088
a0003c0004t0019g0145
 6 HG02572.hp2
HG02717.hp1
HG02896.hp2
others(3): Show 
HG02572.hp2
HG02717.hp1
HG02896.hp2
HG03195.hp2
NA19081.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-10786G>A
c.-101-10786G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120864
chr5:76120938 G
G
 A
A
 4 a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
others(1): Show 
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0002c0003t0086g0088
 4 HG02572.hp2
HG02717.hp1
HG02896.hp2
others(1): Show 
HG02572.hp2
HG02717.hp1
HG02896.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-10712G>A
c.-101-10712G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120938
chr5:76120945 T
T
 C
C
 6 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(3): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 6 HG02615.hp2
HG02886.hp1
HG02895.hp2
others(3): Show 
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-101-10705T>C
c.-101-10705T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120945
chr5:76120946 A
A
 G
G
 6 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(3): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 6 HG02615.hp2
HG02886.hp1
HG02895.hp2
others(3): Show 
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-101-10704A>G
c.-101-10704A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76120946
chr5:76121039 G
G
 C
C
 6 a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
others(3): Show 
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0015t0079g0087
a0002c0003t0080g0084
a0003c0004t0066g0086
 6 HG02615.hp2
HG02886.hp1
HG02895.hp2
others(3): Show 
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.-101-10611G>C
c.-101-10611G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121039
chr5:76121053 T
T
 C
C
 24 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0026g0147
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-10597T>C
c.-101-10597T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121053
chr5:76121142 C
C
 G
G
 24 a0001c0001t0004g0080
a0001c0001t0068g0092
a0001c0001t0073g0089
others(21): Show 
a0001c0001t0004g0080
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0086g0088
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 24 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(21): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-10508C>G
c.-101-10508C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121142
chr5:76121309 C
C
 T
T
 2 a0003c0004t0009g0017
a0003c0004t0139g0016
a0003c0004t0009g0017
a0003c0004t0139g0016
 2 NA18522.hp2
NA20129.hp2
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-10341C>T
c.-101-10341C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121309
chr5:76121311 C
C
 T
T
 2 a0003c0004t0009g0017
a0003c0004t0139g0016
a0003c0004t0009g0017
a0003c0004t0139g0016
 2 NA18522.hp2
NA20129.hp2
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-10339C>T
c.-101-10339C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121311
chr5:76121312 A
A
 G
G
 8 a0001c0001t0004g0080
a0001c0007t0004g0075
a0001c0007t0004g0077
others(5): Show 
a0001c0001t0004g0080
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0003c0004t0009g0017
a0003c0004t0139g0016
 8 HG02486.hp1
HG02965.hp1
HG03098.hp1
others(5): Show 
HG02486.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
NA18522.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-10338A>G
c.-101-10338A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121312
chr5:76121348 C
C
 G
G
 96 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(93): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 96 HG00280.hp2
HG00423.hp1
HG00642.hp2
others(93): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-10302C>G
c.-101-10302C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121348
chr5:76121370 T
T
 G
G
 62 a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
others(59): Show 
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0065g0233
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0118g0018
a0001c0001t0123g0002
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0006t0034g0168
a0002c0006t0094g0142
a0003c0004t0009g0017
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 62 HG00423.hp2
HG00558.hp1
HG00558.hp2
others(59): Show 
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02451.hp2
HG02615.hp2
HG02698.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-10280T>G
c.-101-10280T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121370
chr5:76121389 A
A
 T
T
 4 a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
others(1): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
a0003c0004t0069g0022
 4 HG01891.hp1
HG02109.hp1
HG03471.hp2
others(1): Show 
HG01891.hp1
HG02109.hp1
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.-101-10261A>T
c.-101-10261A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121389
chr5:76121396 G
G
 T
T
 4 a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
others(1): Show 
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0003c0004t0026g0147
 4 HG02572.hp1
HG02895.hp1
HG03130.hp2
others(1): Show 
HG02572.hp1
HG02895.hp1
HG03130.hp2
NA19030.hp2
 intron_variant MODIFIER c.-101-10254G>T
c.-101-10254G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121396
chr5:76121484 G
G
 C
C
 1 a0001c0001t0005g0099
a0001c0001t0005g0099
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.-101-10166G>C
c.-101-10166G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121484
chr5:76121509 G
G
 A
A
 4 a0001c0001t0002g0094
a0001c0002t0036g0176
a0001c0002t0146g0175
others(1): Show 
a0001c0001t0002g0094
a0001c0002t0036g0176
a0001c0002t0146g0175
a0003c0004t0019g0145
 4 HG00733.hp2
HG03195.hp2
NA19081.hp2
others(1): Show 
HG00733.hp2
HG03195.hp2
NA19081.hp2
NA20805.hp1
 intron_variant MODIFIER c.-101-10141G>A
c.-101-10141G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121509
chr5:76121581 A
A
 C
C
 2 a0001c0001t0082g0220
a0002c0008t0002g0221
a0001c0001t0082g0220
a0002c0008t0002g0221
 2 HG02559.hp2
HG02818.hp1
HG02559.hp2
HG02818.hp1
 intron_variant MODIFIER c.-101-10069A>C
c.-101-10069A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121581
chr5:76121591 A
A
 T
T
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-10059A>T
c.-101-10059A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121591
chr5:76121690 G
G
 A
A
 3 a0001c0001t0001g0027
a0001c0001t0001g0031
a0002c0003t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0031
a0002c0003t0001g0026
 3 HG02080.hp2
HG04228.hp2
NA19011.hp1
HG02080.hp2
HG04228.hp2
NA19011.hp1
 intron_variant MODIFIER c.-101-9960G>A
c.-101-9960G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121690
chr5:76121709 C
C
 T
T
 6 a0001c0001t0003g0165
a0002c0003t0033g0169
a0003c0004t0016g0164
others(3): Show 
a0001c0001t0003g0165
a0002c0003t0033g0169
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0155g0149
 6 HG00741.hp1
HG01496.hp2
NA18968.hp2
others(3): Show 
HG00741.hp1
HG01496.hp2
NA18968.hp2
NA18975.hp2
NA19005.hp1
NA20300.hp2
 intron_variant MODIFIER c.-101-9941C>T
c.-101-9941C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121709
chr5:76121765 T
T
 A
A
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-9885T>A
c.-101-9885T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121765
chr5:76121806 G
G
 T
T
 2 a0001c0001t0009g0008
a0001c0001t0125g0007
a0001c0001t0009g0008
a0001c0001t0125g0007
 2 HG02257.hp2
HG02630.hp2
HG02257.hp2
HG02630.hp2
 intron_variant MODIFIER c.-101-9844G>T
c.-101-9844G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121806
chr5:76121838 A
A
 G
G
 1 a0001c0002t0060g0052
a0001c0002t0060g0052
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.-101-9812A>G
c.-101-9812A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121838
chr5:76121845 G
G
 A
A
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-9805G>A
c.-101-9805G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121845
chr5:76121850 A
A
 G
G
 91 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(88): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0009t0076g0213
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0005t0019g0060
 91 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(88): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-9800A>G
c.-101-9800A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121850
chr5:76121906 G
G
 T
T
 1 a0001c0001t0128g0006
a0001c0001t0128g0006
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.-101-9744G>T
c.-101-9744G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121906
chr5:76121931 A
A
 G
G
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
 4 HG02083.hp1
HG02523.hp1
NA19083.hp2
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-101-9719A>G
c.-101-9719A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121931
chr5:76121945 A
A
 G
G
 2 a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0113g0140
a0003c0005t0115g0139
 2 HG00642.hp1
HG01074.hp1
HG00642.hp1
HG01074.hp1
 intron_variant MODIFIER c.-101-9705A>G
c.-101-9705A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76121945
chr5:76122077 G
G
 A
A
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-9573G>A
c.-101-9573G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122077
chr5:76122084 A
A
 C
C
 75 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(72): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0082g0220
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0104g0020
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 75 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(72): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02258.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-9566A>C
c.-101-9566A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122084
chr5:76122113 A
A
 T
T
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-9537A>T
c.-101-9537A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122113
chr5:76122146 A
A
 T
T
 48 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
others(45): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 48 HG00642.hp2
HG00733.hp1
HG00741.hp2
others(45): Show 
HG00642.hp2
HG00733.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02083.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-9504A>T
c.-101-9504A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122146
chr5:76122155 A
A
 G
G
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-9495A>G
c.-101-9495A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122155
chr5:76122179 A
A
 G
G
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-9471A>G
c.-101-9471A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122179
chr5:76122278 A
A
 G
G
 4 a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
others(1): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
a0003c0004t0069g0022
 4 HG01891.hp1
HG02109.hp1
HG03471.hp2
others(1): Show 
HG01891.hp1
HG02109.hp1
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.-101-9372A>G
c.-101-9372A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122278
chr5:76122349 G
G
 C
C
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-9301G>C
c.-101-9301G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122349
chr5:76122383 C
C
 G
G
 2 a0001c0001t0002g0094
a0003c0004t0019g0145
a0001c0001t0002g0094
a0003c0004t0019g0145
 2 HG03195.hp2
NA19081.hp2
HG03195.hp2
NA19081.hp2
 intron_variant MODIFIER c.-101-9267C>G
c.-101-9267C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122383
chr5:76122580 T
T
 C
C
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-9070T>C
c.-101-9070T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122580
chr5:76122615 G
G
 C
C
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-9035G>C
c.-101-9035G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122615
chr5:76122617 C
C
 A
A
 175 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(172): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 175 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(172): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-9033C>A
c.-101-9033C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122617
chr5:76122636 C
C
 T
T
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-9014C>T
c.-101-9014C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122636
chr5:76122676 G
G
 A
A
 5 a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
others(2): Show 
a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0002c0003t0086g0088
 5 HG02486.hp2
HG02572.hp2
HG02717.hp1
others(2): Show 
HG02486.hp2
HG02572.hp2
HG02717.hp1
HG02896.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-8974G>A
c.-101-8974G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122676
chr5:76122726 G
G
 T
T
 1 a0001c0001t0041g0036
a0001c0001t0041g0036
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.-101-8924G>T
c.-101-8924G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122726
chr5:76122803 G
G
 A
A
 50 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
others(47): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 50 HG00642.hp2
HG00733.hp1
HG00741.hp2
others(47): Show 
HG00642.hp2
HG00733.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02083.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA18945.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19063.hp2
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-8847G>A
c.-101-8847G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122803
chr5:76122812 A
A
 T
T
 3 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
 3 HG00280.hp2
HG00738.hp2
HG01433.hp2
HG00280.hp2
HG00738.hp2
HG01433.hp2
 intron_variant MODIFIER c.-101-8838A>T
c.-101-8838A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122812
chr5:76122828 C
C
 G
G
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-8822C>G
c.-101-8822C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122828
chr5:76122895 C
C
 CA
CA
 7 a0001c0001t0001g0058
a0001c0001t0010g0032
a0001c0001t0023g0102
others(4): Show 
a0001c0001t0001g0058
a0001c0001t0010g0032
a0001c0001t0023g0102
a0001c0002t0006g0192
a0001c0002t0064g0038
a0002c0006t0061g0049
a0002c0008t0002g0216
 7 HG00738.hp1
HG01433.hp2
HG02055.hp1
others(4): Show 
HG00738.hp1
HG01433.hp2
HG02055.hp1
HG02080.hp1
HG02300.hp2
NA18966.hp2
NA19001.hp2
 intron_variant MODIFIER c.-101-8747dupA
c.-101-8747dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76122895
chr5:76122895 C
C
 T
T
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-8755C>T
c.-101-8755C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76122895
chr5:76123035 G
G
 T
T
 2 a0001c0001t0002g0094
a0003c0004t0019g0145
a0001c0001t0002g0094
a0003c0004t0019g0145
 2 HG03195.hp2
NA19081.hp2
HG03195.hp2
NA19081.hp2
 intron_variant MODIFIER c.-101-8615G>T
c.-101-8615G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123035
chr5:76123053 C
C
 T
T
 1 a0002c0003t0072g0143
a0002c0003t0072g0143
 1 NA18981.hp2
NA18981.hp2
 intron_variant MODIFIER c.-101-8597C>T
c.-101-8597C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123053
chr5:76123105 G
G
 A
A
 2 a0001c0001t0002g0094
a0003c0004t0019g0145
a0001c0001t0002g0094
a0003c0004t0019g0145
 2 HG03195.hp2
NA19081.hp2
HG03195.hp2
NA19081.hp2
 intron_variant MODIFIER c.-101-8545G>A
c.-101-8545G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123105
chr5:76123144 G
G
 A
A
 1 a0001c0001t0135g0198
a0001c0001t0135g0198
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.-101-8506G>A
c.-101-8506G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123144
chr5:76123144 G
G
 C
C
 1 a0001c0001t0157g0029
a0001c0001t0157g0029
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.-101-8506G>C
c.-101-8506G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123144
chr5:76123147 G
G
 C
C
 1 a0001c0001t0157g0029
a0001c0001t0157g0029
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.-101-8503G>C
c.-101-8503G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123147
chr5:76123155 C
C
 T
T
 1 a0001c0001t0157g0029
a0001c0001t0157g0029
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.-101-8495C>T
c.-101-8495C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123155
chr5:76123243 C
C
 T
T
 1 a0003c0004t0019g0145
a0003c0004t0019g0145
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.-101-8407C>T
c.-101-8407C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123243
chr5:76123337 A
A
 C
C
 10 a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
others(7): Show 
a0001c0001t0007g0122
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0015t0079g0087
a0002c0003t0086g0088
a0003c0004t0026g0147
 10 HG02486.hp2
HG02572.hp1
HG02572.hp2
others(7): Show 
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02717.hp1
HG02895.hp1
HG02896.hp2
HG03130.hp2
HG03225.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-8313A>C
c.-101-8313A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123337
chr5:76123408 A
A
 G
G
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-8242A>G
c.-101-8242A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123408
chr5:76123442 C
C
 G
G
 4 a0001c0001t0003g0185
a0001c0009t0031g0184
a0001c0009t0134g0182
others(1): Show 
a0001c0001t0003g0185
a0001c0009t0031g0184
a0001c0009t0134g0182
a0002c0003t0124g0183
 4 HG01361.hp2
HG01433.hp1
HG01928.hp2
others(1): Show 
HG01361.hp2
HG01433.hp1
HG01928.hp2
HG01943.hp2
 intron_variant MODIFIER c.-101-8208C>G
c.-101-8208C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123442
chr5:76123478 A
A
 G
G
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-8172A>G
c.-101-8172A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123478
chr5:76123643 T
T
 A
A
 4 a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
others(1): Show 
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
 4 HG01884.hp2
HG02145.hp1
HG02258.hp2
others(1): Show 
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG03041.hp1
 intron_variant MODIFIER c.-101-8007T>A
c.-101-8007T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123643
chr5:76123682 C
C
 A
A
 1 a0001c0001t0025g0231
a0001c0001t0025g0231
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.-101-7968C>A
c.-101-7968C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123682
chr5:76123756 G
G
 A
A
 2 a0001c0001t0009g0008
a0001c0001t0125g0007
a0001c0001t0009g0008
a0001c0001t0125g0007
 2 HG02257.hp2
HG02630.hp2
HG02257.hp2
HG02630.hp2
 intron_variant MODIFIER c.-101-7894G>A
c.-101-7894G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123756
chr5:76123960 T
T
 G
G
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-7690T>G
c.-101-7690T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76123960
chr5:76124074 G
G
 T
T
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-7576G>T
c.-101-7576G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76124074
chr5:76124337 T
T
 G
G
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-7313T>G
c.-101-7313T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76124337
chr5:76124413 A
A
 G
G
 2 a0003c0004t0009g0017
a0003c0004t0139g0016
a0003c0004t0009g0017
a0003c0004t0139g0016
 2 NA18522.hp2
NA20129.hp2
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-7237A>G
c.-101-7237A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76124413
chr5:76124501 G
G
 T
T
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-7149G>T
c.-101-7149G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76124501
chr5:76124502 A
A
 C
C
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-7148A>C
c.-101-7148A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76124502
chr5:76124516 A
A
 G
G
 1 a0001c0002t0029g0141
a0001c0002t0029g0141
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.-101-7134A>G
c.-101-7134A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76124516
chr5:76124536 C
C
 A
A
 1 a0001c0001t0033g0003
a0001c0001t0033g0003
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.-101-7114C>A
c.-101-7114C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76124536
chr5:76124568 A
A
 G
G
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-7082A>G
c.-101-7082A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76124568
chr5:76124587 T
T
 C
C
 1 a0001c0001t0131g0181
a0001c0001t0131g0181
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.-101-7063T>C
c.-101-7063T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76124587
chr5:76124916 A
A
 C
C
 4 a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
others(1): Show 
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0103g0148
a0003c0004t0026g0147
 4 HG02572.hp1
HG02895.hp1
HG03130.hp2
others(1): Show 
HG02572.hp1
HG02895.hp1
HG03130.hp2
NA19030.hp2
 intron_variant MODIFIER c.-101-6734A>C
c.-101-6734A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76124916
chr5:76124928 T
T
 C
C
 1 a0001c0001t0135g0198
a0001c0001t0135g0198
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.-101-6722T>C
c.-101-6722T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76124928
chr5:76124939 A
A
 G
G
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-6711A>G
c.-101-6711A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76124939
chr5:76125055 T
T
 C
C
 2 a0001c0001t0009g0008
a0001c0001t0125g0007
a0001c0001t0009g0008
a0001c0001t0125g0007
 2 HG02257.hp2
HG02630.hp2
HG02257.hp2
HG02630.hp2
 intron_variant MODIFIER c.-101-6595T>C
c.-101-6595T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76125055
chr5:76125135 G
G
 A
A
 1 a0001c0002t0009g0186
a0001c0002t0009g0186
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.-101-6515G>A
c.-101-6515G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76125135
chr5:76125246 A
A
 C
C
 20 a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
others(17): Show 
a0001c0001t0004g0080
a0001c0001t0074g0208
a0001c0001t0083g0204
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 20 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(17): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02486.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp1
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-6404A>C
c.-101-6404A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76125246
chr5:76125333 T
T
 A
A
 1 a0001c0002t0145g0189
a0001c0002t0145g0189
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.-101-6317T>A
c.-101-6317T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76125333
chr5:76125486 C
C
 T
T
 1 a0003c0004t0120g0005
a0003c0004t0120g0005
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.-101-6164C>T
c.-101-6164C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76125486
chr5:76125789 G
G
 A
A
 5 a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
others(2): Show 
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
 5 HG02486.hp1
HG03098.hp1
HG03225.hp2
others(2): Show 
HG02486.hp1
HG03098.hp1
HG03225.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-5861G>A
c.-101-5861G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76125789
chr5:76125797 C
C
 T
T
 43 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(40): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0004g0219
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0081g0202
a0001c0001t0121g0097
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0218
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
 43 HG00423.hp1
HG00642.hp2
HG00735.hp2
others(40): Show 
HG00423.hp1
HG00642.hp2
HG00735.hp2
HG01255.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp2
HG02056.hp1
HG02080.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19063.hp1
NA19072.hp2
NA19081.hp2
NA19083.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.-101-5853C>T
c.-101-5853C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76125797
chr5:76126024 C
C
 T
T
 3 a0001c0001t0001g0057
a0001c0001t0011g0056
a0002c0003t0059g0043
a0001c0001t0001g0057
a0001c0001t0011g0056
a0002c0003t0059g0043
 3 HG02015.hp2
NA18968.hp1
NA19068.hp1
HG02015.hp2
NA18968.hp1
NA19068.hp1
 intron_variant MODIFIER c.-101-5626C>T
c.-101-5626C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76126024
chr5:76126132 G
G
 C
C
 17 a0001c0001t0002g0094
a0001c0001t0046g0050
a0001c0001t0082g0220
others(14): Show 
a0001c0001t0002g0094
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0008t0002g0221
a0004c0010t0027g0110
a0004c0010t0027g0111
 17 HG00741.hp2
HG01106.hp1
HG01243.hp2
others(14): Show 
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01884.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02486.hp1
HG02559.hp2
HG02818.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp2
HG03225.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-5518G>C
c.-101-5518G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76126132
chr5:76126160 G
G
 A
A
 17 a0001c0001t0002g0094
a0001c0001t0046g0050
a0001c0001t0082g0220
others(14): Show 
a0001c0001t0002g0094
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0008t0002g0221
a0004c0010t0027g0110
a0004c0010t0027g0111
 17 HG00741.hp2
HG01106.hp1
HG01243.hp2
others(14): Show 
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01884.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02486.hp1
HG02559.hp2
HG02818.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp2
HG03225.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-5490G>A
c.-101-5490G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76126160
chr5:76126280 A
A
 G
G
 1 a0001c0002t0060g0052
a0001c0002t0060g0052
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.-101-5370A>G
c.-101-5370A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76126280
chr5:76126281 A
A
 G
G
 67 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(64): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0004g0219
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0081g0202
a0001c0001t0090g0106
a0001c0001t0121g0097
a0001c0001t0128g0006
a0001c0001t0157g0029
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0064g0038
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0218
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0007c0014t0005g0180
 67 HG00280.hp2
HG00423.hp1
HG00558.hp2
others(64): Show 
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01255.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02056.hp1
HG02080.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp2
NA19079.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.-101-5369A>G
c.-101-5369A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76126281
chr5:76126294 C
C
 A
A
 11 a0001c0001t0002g0094
a0001c0001t0082g0220
a0001c0001t0117g0012
others(8): Show 
a0001c0001t0002g0094
a0001c0001t0082g0220
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0008t0002g0221
a0004c0010t0027g0110
a0004c0010t0027g0111
 11 HG00741.hp2
HG01106.hp1
HG01243.hp2
others(8): Show 
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG02559.hp2
HG02818.hp1
HG02976.hp1
HG03041.hp1
HG03195.hp2
 intron_variant MODIFIER c.-101-5356C>A
c.-101-5356C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76126294
chr5:76126383 G
G
 A
A
 1 a0001c0001t0007g0093
a0001c0001t0007g0093
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.-101-5267G>A
c.-101-5267G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76126383
chr5:76126452 C
C
 T
T
 11 a0001c0001t0002g0094
a0001c0001t0082g0220
a0001c0001t0117g0012
others(8): Show 
a0001c0001t0002g0094
a0001c0001t0082g0220
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0008t0002g0221
a0004c0010t0027g0110
a0004c0010t0027g0111
 11 HG00741.hp2
HG01106.hp1
HG01243.hp2
others(8): Show 
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG02559.hp2
HG02818.hp1
HG02976.hp1
HG03041.hp1
HG03195.hp2
 intron_variant MODIFIER c.-101-5198C>T
c.-101-5198C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76126452
chr5:76126582 G
G
 C
C
 1 a0003c0005t0156g0193
a0003c0005t0156g0193
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.-101-5068G>C
c.-101-5068G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76126582
chr5:76126720 G
G
 A
A
 2 a0004c0010t0027g0110
a0004c0010t0027g0111
a0004c0010t0027g0110
a0004c0010t0027g0111
 2 HG00741.hp2
HG01106.hp1
HG00741.hp2
HG01106.hp1
 intron_variant MODIFIER c.-101-4930G>A
c.-101-4930G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76126720
chr5:76126746 C
C
 G
G
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0009t0076g0213
 6 HG02083.hp1
HG02523.hp1
NA18945.hp2
others(3): Show 
HG02083.hp1
HG02523.hp1
NA18945.hp2
NA19063.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-101-4904C>G
c.-101-4904C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76126746
chr5:76126787 G
G
 A
A
 1 a0001c0001t0032g0004
a0001c0001t0032g0004
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.-101-4863G>A
c.-101-4863G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76126787
chr5:76127026 C
C
 G
G
 1 a0001c0001t0141g0013
a0001c0001t0141g0013
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.-101-4624C>G
c.-101-4624C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127026
chr5:76127042 T
T
 C
C
 2 a0001c0001t0001g0059
a0001c0001t0053g0045
a0001c0001t0001g0059
a0001c0001t0053g0045
 2 HG02602.hp1
HG03704.hp1
HG02602.hp1
HG03704.hp1
 intron_variant MODIFIER c.-101-4608T>C
c.-101-4608T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127042
chr5:76127136 A
A
 C
C
 13 a0001c0001t0002g0094
a0001c0001t0073g0089
a0001c0001t0084g0090
others(10): Show 
a0001c0001t0002g0094
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0015t0079g0087
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0004c0010t0027g0110
a0004c0010t0027g0111
 13 HG00741.hp2
HG01106.hp1
HG01243.hp2
others(10): Show 
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02976.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-4514A>C
c.-101-4514A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127136
chr5:76127204 G
G
 A
A
 5 a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
others(2): Show 
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
 5 HG02486.hp1
HG03098.hp1
HG03225.hp2
others(2): Show 
HG02486.hp1
HG03098.hp1
HG03225.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-4446G>A
c.-101-4446G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127204
chr5:76127255 T
T
 C
C
 13 a0001c0001t0002g0094
a0001c0001t0073g0089
a0001c0001t0084g0090
others(10): Show 
a0001c0001t0002g0094
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0015t0079g0087
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0004c0010t0027g0110
a0004c0010t0027g0111
 13 HG00741.hp2
HG01106.hp1
HG01243.hp2
others(10): Show 
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02976.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-4395T>C
c.-101-4395T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127255
chr5:76127353 C
C
 T
T
 1 a0001c0002t0154g0197
a0001c0002t0154g0197
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.-101-4297C>T
c.-101-4297C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127353
chr5:76127398 T
T
 C
C
 13 a0001c0001t0002g0094
a0001c0001t0073g0089
a0001c0001t0084g0090
others(10): Show 
a0001c0001t0002g0094
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0015t0079g0087
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0004c0010t0027g0110
a0004c0010t0027g0111
 13 HG00741.hp2
HG01106.hp1
HG01243.hp2
others(10): Show 
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02976.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-4252T>C
c.-101-4252T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127398
chr5:76127626 G
G
 C
C
 2 a0003c0004t0009g0017
a0003c0004t0139g0016
a0003c0004t0009g0017
a0003c0004t0139g0016
 2 NA18522.hp2
NA20129.hp2
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.-101-4024G>C
c.-101-4024G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127626
chr5:76127681 G
G
 A
A
 1 a0002c0006t0062g0068
a0002c0006t0062g0068
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.-101-3969G>A
c.-101-3969G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127681
chr5:76127682 A
A
 G
G
 1 a0002c0006t0062g0068
a0002c0006t0062g0068
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.-101-3968A>G
c.-101-3968A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127682
chr5:76127683 G
G
 A
A
 1 a0002c0006t0062g0068
a0002c0006t0062g0068
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.-101-3967G>A
c.-101-3967G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127683
chr5:76127725 G
G
 A
A
 207 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(204): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 207 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(204): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-3925G>A
c.-101-3925G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127725
chr5:76127787 T
T
 A
A
 4 a0001c0001t0082g0220
a0001c0002t0025g0232
a0001c0002t0060g0052
others(1): Show 
a0001c0001t0082g0220
a0001c0002t0025g0232
a0001c0002t0060g0052
a0002c0008t0002g0221
 4 HG02559.hp2
HG02809.hp1
HG02818.hp1
others(1): Show 
HG02559.hp2
HG02809.hp1
HG02818.hp1
NA19084.hp1
 intron_variant MODIFIER c.-101-3863T>A
c.-101-3863T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127787
chr5:76127790 G
G
 A
A
 34 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0009g0190
others(31): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0009g0190
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0009t0076g0213
a0002c0003t0080g0084
a0002c0003t0087g0021
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0139g0016
a0005c0011t0143g0015
 34 HG01891.hp1
HG01891.hp2
HG02055.hp2
others(31): Show 
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02083.hp1
HG02109.hp1
HG02280.hp2
HG02451.hp2
HG02523.hp1
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp2
NA18906.hp1
NA18945.hp2
NA19030.hp1
NA19043.hp1
NA19063.hp2
NA19083.hp2
NA19088.hp1
NA20129.hp2
 intron_variant MODIFIER c.-101-3860G>A
c.-101-3860G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127790
chr5:76127860 C
C
 T
T
 157 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(154): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0063g0053
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 157 HG00280.hp2
HG00423.hp1
HG00642.hp2
others(154): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp2
HG01255.hp2
HG01258.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp1
NA19001.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19063.hp2
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-3790C>T
c.-101-3790C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127860
chr5:76127988 C
C
 G
G
 13 a0001c0001t0002g0094
a0001c0001t0073g0089
a0001c0001t0084g0090
others(10): Show 
a0001c0001t0002g0094
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0015t0079g0087
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0004c0010t0027g0110
a0004c0010t0027g0111
 13 HG00741.hp2
HG01106.hp1
HG01243.hp2
others(10): Show 
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02976.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-3662C>G
c.-101-3662C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76127988
chr5:76128047 C
C
 T
T
 1 a0001c0001t0138g0150
a0001c0001t0138g0150
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.-101-3603C>T
c.-101-3603C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76128047
chr5:76128058 A
A
 G
G
 5 a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
others(2): Show 
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
 5 HG02486.hp1
HG03098.hp1
HG03225.hp2
others(2): Show 
HG02486.hp1
HG03098.hp1
HG03225.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-3592A>G
c.-101-3592A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76128058
chr5:76128416 A
A
 C
C
 1 a0003c0005t0034g0173
a0003c0005t0034g0173
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.-101-3234A>C
c.-101-3234A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76128416
chr5:76128485 G
G
 A
A
 2 a0001c0002t0108g0120
a0001c0002t0145g0189
a0001c0002t0108g0120
a0001c0002t0145g0189
 2 HG01123.hp1
HG02602.hp2
HG01123.hp1
HG02602.hp2
 intron_variant MODIFIER c.-101-3165G>A
c.-101-3165G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76128485
chr5:76128522 G
G
 A
A
 4 a0001c0001t0033g0003
a0001c0001t0075g0115
a0001c0001t0123g0002
others(1): Show 
a0001c0001t0033g0003
a0001c0001t0075g0115
a0001c0001t0123g0002
a0001c0002t0142g0001
 4 HG02056.hp2
NA18952.hp1
NA19060.hp2
others(1): Show 
HG02056.hp2
NA18952.hp1
NA19060.hp2
NA19081.hp1
 intron_variant MODIFIER c.-101-3128G>A
c.-101-3128G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76128522
chr5:76128676 A
A
 G
G
 13 a0001c0001t0002g0094
a0001c0001t0073g0089
a0001c0001t0084g0090
others(10): Show 
a0001c0001t0002g0094
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0015t0079g0087
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0004c0010t0027g0110
a0004c0010t0027g0111
 13 HG00741.hp2
HG01106.hp1
HG01243.hp2
others(10): Show 
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02976.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-2974A>G
c.-101-2974A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76128676
chr5:76128751 T
T
 C
C
 13 a0001c0001t0002g0094
a0001c0001t0073g0089
a0001c0001t0084g0090
others(10): Show 
a0001c0001t0002g0094
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0015t0079g0087
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0004c0010t0027g0110
a0004c0010t0027g0111
 13 HG00741.hp2
HG01106.hp1
HG01243.hp2
others(10): Show 
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02976.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-2899T>C
c.-101-2899T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76128751
chr5:76128868 C
C
 T
T
 174 a0001c0001t0001g0031
a0001c0001t0002g0023
a0001c0001t0002g0024
others(171): Show 
a0001c0001t0001g0031
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
 174 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(171): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03834.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp1
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18966.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-2782C>T
c.-101-2782C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76128868
chr5:76128894 G
G
 C
C
 13 a0001c0001t0002g0094
a0001c0001t0073g0089
a0001c0001t0084g0090
others(10): Show 
a0001c0001t0002g0094
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0015t0079g0087
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0004c0010t0027g0110
a0004c0010t0027g0111
 13 HG00741.hp2
HG01106.hp1
HG01243.hp2
others(10): Show 
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02976.hp1
HG03041.hp1
HG03195.hp2
HG03225.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-2756G>C
c.-101-2756G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76128894
chr5:76129056 A
A
 G
G
 1 a0002c0006t0062g0068
a0002c0006t0062g0068
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.-101-2594A>G
c.-101-2594A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76129056
chr5:76129218 T
T
 C
C
 4 a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0018g0067
others(1): Show 
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0018g0067
a0003c0004t0038g0066
 4 HG01928.hp1
HG02056.hp1
NA18981.hp1
others(1): Show 
HG01928.hp1
HG02056.hp1
NA18981.hp1
NA18992.hp1
 intron_variant MODIFIER c.-101-2432T>C
c.-101-2432T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76129218
chr5:76129390 CAAAAAGA
others(10): Show 
CAAAAAGAGAACTTATAT
 C
C
 3 a0001c0001t0009g0190
a0001c0001t0118g0018
a0003c0004t0026g0147
a0001c0001t0009g0190
a0001c0001t0118g0018
a0003c0004t0026g0147
 3 HG02572.hp1
HG02809.hp2
HG02886.hp2
HG02572.hp1
HG02809.hp2
HG02886.hp2
 intron_variant MODIFIER c.-101-2259_-101-224
others(21): Show 
c.-101-2259_-101-2243delAAAAAGAGAACTTATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76129390
chr5:76129402 T
T
 G
G
 20 a0001c0001t0082g0220
a0001c0002t0006g0174
a0001c0002t0006g0177
others(17): Show 
a0001c0001t0082g0220
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0025g0232
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0105g0117
a0001c0002t0142g0001
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0005t0156g0193
 20 HG00140.hp1
HG00280.hp1
HG00733.hp2
others(17): Show 
HG00140.hp1
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01496.hp1
HG01515.hp2
HG02056.hp2
HG02257.hp1
HG02559.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp1
NA19084.hp1
NA20805.hp1
 intron_variant MODIFIER c.-101-2248T>G
c.-101-2248T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76129402
chr5:76129822 T
T
 C
C
 1 a0001c0001t0007g0122
a0001c0001t0007g0122
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.-101-1828T>C
c.-101-1828T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76129822
chr5:76130020 C
C
 G
G
 2 a0001c0001t0007g0122
a0002c0003t0129g0188
a0001c0001t0007g0122
a0002c0003t0129g0188
 2 HG01243.hp2
HG02486.hp2
HG01243.hp2
HG02486.hp2
 intron_variant MODIFIER c.-101-1630C>G
c.-101-1630C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76130020
chr5:76130145 T
T
 TA
TA
 17 a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0011g0040
others(14): Show 
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0031g0179
a0001c0001t0040g0070
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0121g0097
a0001c0001t0157g0029
a0002c0003t0021g0103
a0002c0003t0049g0025
a0002c0003t0067g0109
a0003c0004t0039g0062
a0007c0014t0005g0180
 17 HG00423.hp1
HG00558.hp2
HG02056.hp1
others(14): Show 
HG00423.hp1
HG00558.hp2
HG02056.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG03704.hp1
HG03834.hp2
NA18906.hp2
NA18954.hp1
NA19005.hp2
NA19056.hp1
NA19083.hp1
NA19084.hp2
NA20905.hp2
 intron_variant MODIFIER c.-101-1470dupA
c.-101-1470dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76130145
chr5:76130145 T
T
 TAA
TAA
 12 a0001c0001t0001g0061
a0001c0001t0010g0032
a0001c0001t0010g0037
others(9): Show 
a0001c0001t0001g0061
a0001c0001t0010g0032
a0001c0001t0010g0037
a0001c0001t0018g0044
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0090g0106
a0002c0003t0021g0105
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0091g0107
 12 HG00280.hp2
HG00735.hp1
HG01074.hp2
others(9): Show 
HG00280.hp2
HG00735.hp1
HG01074.hp2
HG01433.hp2
HG01884.hp1
HG01981.hp1
HG02523.hp2
HG02735.hp2
HG02970.hp1
NA18998.hp1
NA19079.hp1
NA19081.hp2
 intron_variant MODIFIER c.-101-1471_-101-147
others(6): Show 
c.-101-1471_-101-1470dupAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76130145
chr5:76130145 T
T
 TAAA
TAAA
 11 a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0008g0104
others(8): Show 
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0008g0104
a0001c0001t0017g0034
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0048g0047
a0001c0001t0081g0202
a0001c0001t0118g0018
a0003c0004t0045g0048
 11 HG00735.hp2
HG01255.hp2
HG01928.hp1
others(8): Show 
HG00735.hp2
HG01255.hp2
HG01928.hp1
HG01981.hp2
HG02280.hp1
HG02886.hp2
NA18992.hp1
NA19001.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.-101-1472_-101-147
others(7): Show 
c.-101-1472_-101-1470dupAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76130145
chr5:76130145 T
T
 TAAAA
TAAAA
 6 a0001c0001t0010g0033
a0001c0001t0088g0123
a0001c0001t0135g0198
others(3): Show 
a0001c0001t0010g0033
a0001c0001t0088g0123
a0001c0001t0135g0198
a0002c0003t0087g0021
a0003c0004t0038g0066
a0003c0004t0069g0022
 6 HG00738.hp2
HG01891.hp1
HG02451.hp2
others(3): Show 
HG00738.hp2
HG01891.hp1
HG02451.hp2
HG03471.hp2
NA18981.hp1
NA19030.hp1
 intron_variant MODIFIER c.-101-1473_-101-147
others(8): Show 
c.-101-1473_-101-1470dupAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76130145
chr5:76130145 TAAAA
TAAAA
 T
T
 7 a0001c0001t0033g0003
a0001c0001t0077g0212
a0001c0001t0092g0211
others(4): Show 
a0001c0001t0033g0003
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0138g0150
a0002c0008t0002g0216
a0003c0004t0058g0051
 7 HG02055.hp1
HG02523.hp1
HG04199.hp1
others(4): Show 
HG02055.hp1
HG02523.hp1
HG04199.hp1
NA18952.hp1
NA19007.hp1
NA19060.hp2
NA19088.hp1
 intron_variant MODIFIER c.-101-1473_-101-147
others(8): Show 
c.-101-1473_-101-1470delAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76130145
chr5:76130145 TAAAAA
TAAAAA
 T
T
 21 a0001c0001t0001g0031
a0001c0001t0002g0094
a0001c0001t0012g0083
others(18): Show 
a0001c0001t0001g0031
a0001c0001t0002g0094
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0084g0090
a0001c0001t0126g0172
a0001c0001t0131g0181
a0001c0002t0025g0232
a0001c0009t0076g0213
a0001c0015t0079g0087
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0119g0187
a0003c0004t0012g0222
a0003c0004t0026g0147
 21 HG01243.hp1
HG02080.hp2
HG02083.hp1
others(18): Show 
HG01243.hp1
HG02080.hp2
HG02083.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02647.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp2
HG02976.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03486.hp1
NA19081.hp1
NA19083.hp2
NA21309.hp2
 intron_variant MODIFIER c.-101-1474_-101-147
others(9): Show 
c.-101-1474_-101-1470delAAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76130145
chr5:76130145 TAAAAAA
TAAAAAA
 T
T
 42 a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
others(39): Show 
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0023g0131
a0001c0001t0032g0160
a0001c0001t0070g0227
a0001c0001t0125g0007
a0001c0001t0137g0159
a0001c0002t0014g0134
a0001c0002t0099g0132
a0001c0002t0102g0234
a0001c0002t0111g0133
a0001c0009t0031g0184
a0001c0009t0134g0182
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0066g0086
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0115g0139
 42 HG00642.hp1
HG00733.hp1
HG00741.hp1
others(39): Show 
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01109.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01928.hp2
HG01943.hp1
HG02083.hp2
HG02257.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02630.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03209.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18955.hp2
NA18966.hp1
NA18968.hp2
NA18981.hp2
NA18990.hp2
NA19005.hp1
NA19007.hp2
NA19072.hp1
NA19079.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
 intron_variant MODIFIER c.-101-1475_-101-147
others(10): Show 
c.-101-1475_-101-1470delAAAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76130145
chr5:76130145 TAAAAAAA
TAAAAAAA
 T
T
 40 a0001c0001t0005g0162
a0001c0001t0025g0231
a0001c0001t0074g0208
others(37): Show 
a0001c0001t0005g0162
a0001c0001t0025g0231
a0001c0001t0074g0208
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0148g0158
a0001c0002t0149g0019
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0005g0161
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0116g0126
a0003c0005t0155g0149
a0005c0011t0143g0015
 40 HG00558.hp1
HG01074.hp1
HG01168.hp2
others(37): Show 
HG00558.hp1
HG01074.hp1
HG01168.hp2
HG01243.hp2
HG01361.hp1
HG01891.hp2
HG02015.hp1
HG02080.hp1
HG02145.hp2
HG02280.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG03471.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA19043.hp1
NA19056.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19091.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-101-1476_-101-147
others(11): Show 
c.-101-1476_-101-1470delAAAAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76130145
chr5:76130145 TAAAAAAA
others(1): Show 
TAAAAAAAA
 T
T
 9 a0001c0001t0003g0185
a0001c0002t0009g0186
a0001c0002t0013g0082
others(6): Show 
a0001c0001t0003g0185
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0029g0141
a0001c0002t0089g0081
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0007t0004g0075
a0001c0013t0014g0119
 9 HG01255.hp1
HG01943.hp2
HG02109.hp2
others(6): Show 
HG01255.hp1
HG01943.hp2
HG02109.hp2
HG02486.hp1
HG02735.hp1
HG03130.hp2
NA18998.hp2
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.-101-1477_-101-147
others(12): Show 
c.-101-1477_-101-1470delAAAAAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76130145
chr5:76130145 TAAAAAAA
others(2): Show 
TAAAAAAAAA
 T
T
 6 a0001c0001t0141g0013
a0001c0002t0103g0148
a0001c0007t0004g0077
others(3): Show 
a0001c0001t0141g0013
a0001c0002t0103g0148
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
 6 HG02055.hp2
HG02895.hp1
HG03098.hp1
others(3): Show 
HG02055.hp2
HG02895.hp1
HG03098.hp1
HG03225.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.-101-1478_-101-147
others(13): Show 
c.-101-1478_-101-1470delAAAAAAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76130145
chr5:76130145 TAAAAAAA
others(5): Show 
TAAAAAAAAAAAA
 T
T
 1 a0002c0003t0044g0074
a0002c0003t0044g0074
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-101-1481_-101-147
others(16): Show 
c.-101-1481_-101-1470delAAAAAAAAAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76130145
chr5:76130145 TAAAAAAA
others(9): Show 
TAAAAAAAAAAAAAAAA
 T
T
 22 a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0174
others(19): Show 
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0096g0112
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0154g0197
a0002c0006t0095g0091
a0003c0005t0156g0193
a0006c0012t0035g0153
 22 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(19): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01261.hp1
HG01515.hp1
HG01515.hp2
HG02257.hp1
HG02602.hp2
HG02615.hp1
HG02698.hp2
HG02738.hp2
HG03834.hp1
HG04184.hp2
HG04204.hp1
NA20805.hp1
 intron_variant MODIFIER c.-101-1485_-101-147
others(20): Show 
c.-101-1485_-101-1470delAAAAAAAAAAAAAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76130145
chr5:76130145 TAAAAAAA
others(10): Show 
TAAAAAAAAAAAAAAAAA
 T
T
 3 a0001c0002t0152g0199
a0001c0002t0153g0200
a0002c0006t0147g0195
a0001c0002t0152g0199
a0001c0002t0153g0200
a0002c0006t0147g0195
 3 HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01256.hp1
HG01258.hp2
HG01496.hp1
 intron_variant MODIFIER c.-101-1486_-101-147
others(21): Show 
c.-101-1486_-101-1470delAAAAAAAAAAAAAAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76130145
chr5:76130145 TAAAAAAA
others(11): Show 
TAAAAAAAAAAAAAAAAAA
 T
T
 3 a0003c0004t0120g0005
a0004c0010t0027g0110
a0004c0010t0027g0111
a0003c0004t0120g0005
a0004c0010t0027g0110
a0004c0010t0027g0111
 3 HG00741.hp2
HG01106.hp1
HG03130.hp1
HG00741.hp2
HG01106.hp1
HG03130.hp1
 intron_variant MODIFIER c.-101-1487_-101-147
others(22): Show 
c.-101-1487_-101-1470delAAAAAAAAAAAAAAAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76130145
chr5:76130184 C
C
 A
A
 4 a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
others(1): Show 
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
 4 HG01884.hp2
HG02145.hp1
HG02258.hp2
others(1): Show 
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG03041.hp1
 intron_variant MODIFIER c.-101-1466C>A
c.-101-1466C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76130184
chr5:76130523 T
T
 C
C
 9 a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
others(6): Show 
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0005c0011t0143g0015
 9 HG01891.hp2
HG02280.hp2
HG02717.hp2
others(6): Show 
HG01891.hp2
HG02280.hp2
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.-101-1127T>C
c.-101-1127T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76130523
chr5:76130807 G
G
 A
A
 1 a0001c0013t0014g0119
a0001c0013t0014g0119
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.-101-843G>A
c.-101-843G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76130807
chr5:76130987 C
C
 T
T
 1 a0002c0003t0085g0215
a0002c0003t0085g0215
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.-101-663C>T
c.-101-663C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76130987
chr5:76131038 T
T
 C
C
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0136g0095
a0001c0009t0076g0213
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19001.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19001.hp1
NA19007.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.-101-612T>C
c.-101-612T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76131038
chr5:76131148 T
T
 C
C
 1 a0001c0001t0007g0122
a0001c0001t0007g0122
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.-101-502T>C
c.-101-502T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76131148
chr5:76131232 T
T
 C
C
 1 a0001c0001t0007g0122
a0001c0001t0007g0122
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.-101-418T>C
c.-101-418T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76131232
chr5:76131301 T
T
 A
A
 3 a0001c0001t0073g0089
a0001c0001t0084g0090
a0002c0003t0086g0088
a0001c0001t0073g0089
a0001c0001t0084g0090
a0002c0003t0086g0088
 3 HG02572.hp2
HG02717.hp1
NA21309.hp2
HG02572.hp2
HG02717.hp1
NA21309.hp2
 intron_variant MODIFIER c.-101-349T>A
c.-101-349T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76131301
chr5:76131330 G
G
 A
A
 2 a0001c0001t0024g0201
a0001c0001t0081g0202
a0001c0001t0024g0201
a0001c0001t0081g0202
 2 HG01981.hp2
HG02280.hp1
HG01981.hp2
HG02280.hp1
 intron_variant MODIFIER c.-101-320G>A
c.-101-320G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76131330
chr5:76131510 A
A
 G
G
 1 a0001c0001t0157g0029
a0001c0001t0157g0029
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.-101-140A>G
c.-101-140A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76131510
chr5:76131514 C
C
 CA
CA
 6 a0001c0001t0003g0171
a0001c0002t0009g0186
a0001c0002t0013g0082
others(3): Show 
a0001c0001t0003g0171
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0013g0226
 6 HG02896.hp1
HG03130.hp2
NA18955.hp2
others(3): Show 
HG02896.hp1
HG03130.hp2
NA18955.hp2
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.-101-120dupA
c.-101-120dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 INFO_REALIGN_3_PRIME chr5 76131514
chr5:76131602 A
A
 G
G
 2 a0001c0001t0009g0190
a0003c0004t0026g0147
a0001c0001t0009g0190
a0003c0004t0026g0147
 2 HG02572.hp1
HG02809.hp2
HG02572.hp1
HG02809.hp2
 intron_variant MODIFIER c.-101-48A>G
c.-101-48A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76131602
chr5:76131625 A
A
 G
G
 1 a0001c0002t0025g0232
a0001c0002t0025g0232
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.-101-25A>G
c.-101-25A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 1/12 chr5 76131625
chr5:76132778 G
G
 A
A
 4 a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
others(1): Show 
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
 4 HG01884.hp2
HG02145.hp1
HG02258.hp2
others(1): Show 
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG03041.hp1
 intron_variant MODIFIER c.580+448G>A
c.580+448G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76132778
chr5:76132807 A
A
 G
G
 1 a0001c0002t0015g0138
a0001c0002t0015g0138
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.580+477A>G
c.580+477A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76132807
chr5:76132890 A
A
 T
T
 46 a0001c0001t0032g0004
a0001c0002t0014g0134
a0001c0002t0014g0136
others(43): Show 
a0001c0001t0032g0004
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0013t0014g0119
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0005c0011t0143g0015
 46 HG00423.hp2
HG00558.hp1
HG00642.hp1
others(43): Show 
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG01074.hp1
HG01168.hp2
HG01255.hp1
HG01256.hp2
HG01261.hp2
HG01361.hp1
HG01891.hp2
HG02015.hp1
HG02080.hp1
HG02109.hp2
HG02145.hp2
HG02280.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
HG03540.hp2
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA18998.hp2
NA19043.hp1
NA19056.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+560A>T
c.580+560A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76132890
chr5:76133104 G
G
 A
A
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0136g0095
a0001c0009t0076g0213
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19001.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19001.hp1
NA19007.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+774G>A
c.580+774G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76133104
chr5:76133190 C
C
 T
T
 174 a0001c0001t0001g0031
a0001c0001t0002g0023
a0001c0001t0002g0024
others(171): Show 
a0001c0001t0001g0031
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
 174 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(171): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+860C>T
c.580+860C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76133190
chr5:76133292 G
G
 A
A
 1 a0002c0003t0013g0226
a0002c0003t0013g0226
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.580+962G>A
c.580+962G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76133292
chr5:76133299 A
A
 G
G
 5 a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0075g0115
others(2): Show 
a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0075g0115
a0001c0001t0123g0002
a0001c0001t0133g0157
 5 HG04199.hp2
HG04204.hp1
NA18952.hp1
others(2): Show 
HG04199.hp2
HG04204.hp1
NA18952.hp1
NA19060.hp2
NA19081.hp1
 intron_variant MODIFIER c.580+969A>G
c.580+969A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76133299
chr5:76133385 C
C
 T
T
 47 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
others(44): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0009g0190
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0009t0076g0213
a0002c0003t0026g0230
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0026g0147
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0004c0010t0027g0110
a0004c0010t0027g0111
 47 HG00642.hp2
HG00741.hp2
HG01106.hp1
others(44): Show 
HG00642.hp2
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG04199.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp1
NA18952.hp1
NA19001.hp1
NA19007.hp1
NA19030.hp1
NA19060.hp2
NA19081.hp1
NA19083.hp2
NA19088.hp1
NA21309.hp2
 intron_variant MODIFIER c.580+1055C>T
c.580+1055C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76133385
chr5:76133449 T
T
 C
C
 93 a0001c0001t0001g0031
a0001c0001t0002g0023
a0001c0001t0002g0024
others(90): Show 
a0001c0001t0001g0031
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0004c0010t0027g0110
a0004c0010t0027g0111
 93 HG00642.hp2
HG00733.hp1
HG00741.hp1
others(90): Show 
HG00642.hp2
HG00733.hp1
HG00741.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03704.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18955.hp2
NA18960.hp1
NA18966.hp1
NA18968.hp2
NA18981.hp2
NA18990.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19030.hp1
NA19060.hp2
NA19072.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19088.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.580+1119T>C
c.580+1119T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76133449
chr5:76133487 C
C
 A
A
 47 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
others(44): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0009g0190
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0009t0076g0213
a0002c0003t0026g0230
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0026g0147
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0004c0010t0027g0110
a0004c0010t0027g0111
 47 HG00642.hp2
HG00741.hp2
HG01106.hp1
others(44): Show 
HG00642.hp2
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG04199.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp1
NA18952.hp1
NA19001.hp1
NA19007.hp1
NA19030.hp1
NA19060.hp2
NA19081.hp1
NA19083.hp2
NA19088.hp1
NA21309.hp2
 intron_variant MODIFIER c.580+1157C>A
c.580+1157C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76133487
chr5:76133698 A
A
 G
G
 1 a0001c0001t0003g0171
a0001c0001t0003g0171
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.580+1368A>G
c.580+1368A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76133698
chr5:76133706 G
G
 A
A
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.580+1376G>A
c.580+1376G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76133706
chr5:76133778 A
A
 G
G
 45 a0001c0001t0001g0031
a0001c0001t0002g0224
a0001c0001t0003g0096
others(42): Show 
a0001c0001t0001g0031
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0070g0227
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0131g0181
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0008t0002g0216
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0139g0016
a0003c0004t0140g0163
 45 HG00733.hp1
HG00741.hp1
HG01109.hp1
others(42): Show 
HG00733.hp1
HG00741.hp1
HG01109.hp1
HG01243.hp1
HG01258.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01928.hp2
HG01943.hp2
HG02055.hp1
HG02080.hp2
HG02083.hp2
HG02257.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp1
HG02630.hp2
HG02647.hp1
HG02738.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03704.hp2
HG04199.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18955.hp2
NA18960.hp1
NA18966.hp1
NA18968.hp2
NA18981.hp2
NA18990.hp2
NA19005.hp1
NA19007.hp2
NA19072.hp1
NA19079.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.580+1448A>G
c.580+1448A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76133778
chr5:76133894 A
A
 G
G
 1 a0003c0005t0030g0137
a0003c0005t0030g0137
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+1564A>G
c.580+1564A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76133894
chr5:76133900 C
C
 A
A
 5 a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0075g0115
others(2): Show 
a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0075g0115
a0001c0001t0123g0002
a0001c0001t0133g0157
 5 HG04199.hp2
HG04204.hp1
NA18952.hp1
others(2): Show 
HG04199.hp2
HG04204.hp1
NA18952.hp1
NA19060.hp2
NA19081.hp1
 intron_variant MODIFIER c.580+1570C>A
c.580+1570C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76133900
chr5:76133998 A
A
 G
G
 1 a0003c0005t0155g0149
a0003c0005t0155g0149
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.580+1668A>G
c.580+1668A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76133998
chr5:76134043 C
C
 T
T
 2 a0001c0001t0002g0094
a0002c0003t0119g0187
a0001c0001t0002g0094
a0002c0003t0119g0187
 2 HG02976.hp1
HG03195.hp2
HG02976.hp1
HG03195.hp2
 intron_variant MODIFIER c.580+1713C>T
c.580+1713C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76134043
chr5:76134134 G
G
 A
A
 4 a0001c0001t0011g0056
a0001c0001t0022g0108
a0002c0003t0021g0105
others(1): Show 
a0001c0001t0011g0056
a0001c0001t0022g0108
a0002c0003t0021g0105
a0002c0003t0067g0109
 4 HG00558.hp2
NA18968.hp1
NA19079.hp1
others(1): Show 
HG00558.hp2
NA18968.hp1
NA19079.hp1
NA19084.hp2
 intron_variant MODIFIER c.580+1804G>A
c.580+1804G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76134134
chr5:76134157 A
A
 G
G
 81 a0001c0001t0001g0031
a0001c0001t0002g0023
a0001c0001t0002g0024
others(78): Show 
a0001c0001t0001g0031
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0004c0010t0027g0110
a0004c0010t0027g0111
 81 HG00642.hp2
HG00733.hp1
HG00741.hp1
others(78): Show 
HG00642.hp2
HG00733.hp1
HG00741.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG01943.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03704.hp2
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18945.hp1
NA18951.hp1
NA18955.hp2
NA18960.hp1
NA18966.hp1
NA18968.hp2
NA18981.hp2
NA18990.hp2
NA19005.hp1
NA19007.hp2
NA19030.hp1
NA19072.hp1
NA19079.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.580+1827A>G
c.580+1827A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76134157
chr5:76134402 C
C
 G
G
 15 a0001c0001t0004g0219
a0001c0001t0012g0083
a0001c0001t0013g0085
others(12): Show 
a0001c0001t0004g0219
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0002c0003t0026g0230
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0008t0002g0218
a0003c0004t0066g0086
 15 HG00642.hp2
HG01243.hp2
HG01884.hp2
others(12): Show 
HG00642.hp2
HG01243.hp2
HG01884.hp2
HG02145.hp1
HG02258.hp2
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG03041.hp1
HG03209.hp2
HG03486.hp1
HG03486.hp2
NA18522.hp1
 intron_variant MODIFIER c.580+2072C>G
c.580+2072C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76134402
chr5:76134473 T
T
 G
G
 21 a0001c0001t0004g0219
a0001c0001t0012g0083
a0001c0001t0013g0085
others(18): Show 
a0001c0001t0004g0219
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0136g0095
a0001c0009t0076g0213
a0002c0003t0026g0230
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0008t0002g0218
a0003c0004t0058g0051
a0003c0004t0066g0086
 21 HG00642.hp2
HG01243.hp2
HG01884.hp2
others(18): Show 
HG00642.hp2
HG01243.hp2
HG01884.hp2
HG02083.hp1
HG02145.hp1
HG02258.hp2
HG02523.hp1
HG02615.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG03041.hp1
HG03209.hp2
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19001.hp1
NA19007.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+2143T>G
c.580+2143T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76134473
chr5:76134522 T
T
 C
C
 6 a0001c0001t0004g0080
a0001c0001t0073g0089
a0001c0001t0082g0220
others(3): Show 
a0001c0001t0004g0080
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0002c0003t0086g0088
a0002c0008t0002g0221
 6 HG02559.hp2
HG02572.hp2
HG02717.hp1
others(3): Show 
HG02559.hp2
HG02572.hp2
HG02717.hp1
HG02818.hp1
HG02965.hp1
NA21309.hp2
 intron_variant MODIFIER c.580+2192T>C
c.580+2192T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76134522
chr5:76134542 T
T
 C
C
 1 a0001c0001t0004g0080
a0001c0001t0004g0080
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.580+2212T>C
c.580+2212T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76134542
chr5:76134849 A
A
 G
G
 6 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0088g0123
others(3): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0088g0123
a0001c0001t0135g0198
a0002c0003t0087g0021
a0003c0004t0069g0022
 6 HG01891.hp1
HG02109.hp1
HG02451.hp2
others(3): Show 
HG01891.hp1
HG02109.hp1
HG02451.hp2
HG03471.hp2
NA18906.hp1
NA19030.hp1
 intron_variant MODIFIER c.580+2519A>G
c.580+2519A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76134849
chr5:76134872 G
G
 A
A
 3 a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0089g0081
 3 HG03130.hp2
NA19030.hp2
NA20300.hp1
HG03130.hp2
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.580+2542G>A
c.580+2542G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76134872
chr5:76134932 G
G
 T
T
 5 a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0075g0115
others(2): Show 
a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0075g0115
a0001c0001t0123g0002
a0001c0001t0133g0157
 5 HG04199.hp2
HG04204.hp1
NA18952.hp1
others(2): Show 
HG04199.hp2
HG04204.hp1
NA18952.hp1
NA19060.hp2
NA19081.hp1
 intron_variant MODIFIER c.580+2602G>T
c.580+2602G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76134932
chr5:76135339 A
A
 G
G
 1 a0002c0006t0095g0091
a0002c0006t0095g0091
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.580+3009A>G
c.580+3009A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76135339
chr5:76135525 G
G
 T
T
 1 a0001c0001t0011g0065
a0001c0001t0011g0065
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.580+3195G>T
c.580+3195G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76135525
chr5:76135589 T
T
 C
C
 2 a0001c0001t0004g0080
a0002c0008t0002g0216
a0001c0001t0004g0080
a0002c0008t0002g0216
 2 HG02055.hp1
HG02965.hp1
HG02055.hp1
HG02965.hp1
 intron_variant MODIFIER c.580+3259T>C
c.580+3259T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76135589
chr5:76135614 A
A
 G
G
 95 a0001c0001t0001g0031
a0001c0001t0002g0023
a0001c0001t0002g0024
others(92): Show 
a0001c0001t0001g0031
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0032g0004
a0001c0001t0046g0050
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0126g0172
a0001c0001t0131g0181
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0005c0011t0143g0015
a0007c0014t0005g0180
 95 HG00423.hp2
HG00558.hp1
HG00642.hp1
others(92): Show 
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18945.hp1
NA18945.hp2
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp2
NA19063.hp1
NA19063.hp2
NA19072.hp2
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.580+3284A>G
c.580+3284A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76135614
chr5:76135781 T
T
 C
C
 1 a0002c0006t0095g0091
a0002c0006t0095g0091
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.580+3451T>C
c.580+3451T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76135781
chr5:76135791 C
C
 T
T
 1 a0002c0006t0095g0091
a0002c0006t0095g0091
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.580+3461C>T
c.580+3461C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76135791
chr5:76135874 G
G
 A
A
 149 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0094
others(146): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 149 HG00423.hp2
HG00558.hp1
HG00642.hp1
others(146): Show 
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03540.hp2
HG03704.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18981.hp2
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.580+3544G>A
c.580+3544G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76135874
chr5:76136049 G
G
 A
A
 1 a0007c0014t0005g0180
a0007c0014t0005g0180
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.580+3719G>A
c.580+3719G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76136049
chr5:76136250 C
C
 T
T
 1 a0001c0002t0035g0178
a0001c0002t0035g0178
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.580+3920C>T
c.580+3920C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76136250
chr5:76136251 G
G
 A
A
 2 a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0073g0089
a0001c0001t0084g0090
 2 HG02572.hp2
NA21309.hp2
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.580+3921G>A
c.580+3921G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76136251
chr5:76136315 T
T
 G
G
 1 a0001c0001t0008g0127
a0001c0001t0008g0127
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.580+3985T>G
c.580+3985T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76136315
chr5:76136399 G
G
 A
A
 2 a0001c0002t0025g0232
a0001c0002t0109g0209
a0001c0002t0025g0232
a0001c0002t0109g0209
 2 HG01891.hp2
HG02809.hp1
HG01891.hp2
HG02809.hp1
 intron_variant MODIFIER c.580+4069G>A
c.580+4069G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76136399
chr5:76136478 T
T
 G
G
 43 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(40): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0069g0022
 43 HG00423.hp1
HG00558.hp2
HG01496.hp1
others(40): Show 
HG00423.hp1
HG00558.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG02015.hp2
HG02109.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02717.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+4148T>G
c.580+4148T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76136478
chr5:76136529 GT
GT
 G
G
 15 a0001c0001t0002g0094
a0001c0001t0007g0122
a0001c0001t0022g0214
others(12): Show 
a0001c0001t0002g0094
a0001c0001t0007g0122
a0001c0001t0022g0214
a0001c0001t0070g0227
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 15 HG01109.hp1
HG02083.hp1
HG02486.hp2
others(12): Show 
HG01109.hp1
HG02083.hp1
HG02486.hp2
HG02523.hp1
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03195.hp2
HG03471.hp1
HG03540.hp2
NA19007.hp1
NA19043.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+4210delT
c.580+4210delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76136529
chr5:76136529 GTT
GTT
 G
G
 38 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(35): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0066g0086
 38 HG00423.hp1
HG00558.hp2
HG01496.hp1
others(35): Show 
HG00423.hp1
HG00558.hp2
HG01496.hp1
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+4209_580+4210d
others(4): Show 
c.580+4209_580+4210delTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76136529
chr5:76136624 C
C
 T
T
 32 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(29): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0102g0234
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0066g0086
 32 HG00423.hp1
HG00558.hp2
HG01496.hp1
others(29): Show 
HG00423.hp1
HG00558.hp2
HG01496.hp1
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03195.hp1
HG03209.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+4294C>T
c.580+4294C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76136624
chr5:76136835 G
G
 A
A
 1 a0001c0013t0014g0119
a0001c0013t0014g0119
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.580+4505G>A
c.580+4505G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76136835
chr5:76136880 T
T
 G
G
 3 a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.580+4550T>G
c.580+4550T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76136880
chr5:76136912 C
C
 T
T
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+4582C>T
c.580+4582C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76136912
chr5:76137258 G
G
 A
A
 1 a0001c0001t0007g0122
a0001c0001t0007g0122
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.580+4928G>A
c.580+4928G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76137258
chr5:76137311 A
A
 T
T
 1 a0001c0001t0004g0229
a0001c0001t0004g0229
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.580+4981A>T
c.580+4981A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76137311
chr5:76137415 A
A
 T
T
 35 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
others(32): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 35 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(32): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+5085A>T
c.580+5085A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76137415
chr5:76137430 G
G
 A
A
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+5100G>A
c.580+5100G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76137430
chr5:76137678 G
G
 A
A
 13 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
others(10): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 13 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(10): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+5348G>A
c.580+5348G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76137678
chr5:76137776 C
C
 T
T
 40 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(37): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
 40 HG00423.hp1
HG00558.hp2
HG01884.hp1
others(37): Show 
HG00423.hp1
HG00558.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02717.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+5446C>T
c.580+5446C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76137776
chr5:76137813 C
C
 T
T
 5 a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
others(2): Show 
a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
 5 HG02486.hp1
HG03098.hp1
HG03139.hp1
others(2): Show 
HG02486.hp1
HG03098.hp1
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.580+5483C>T
c.580+5483C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76137813
chr5:76138049 G
G
 A
A
 3 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0002t0089g0081
 3 HG02965.hp1
NA19030.hp2
NA20300.hp1
HG02965.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.580+5719G>A
c.580+5719G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76138049
chr5:76138108 T
T
 A
A
 40 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(37): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
 40 HG00423.hp1
HG00558.hp2
HG01884.hp1
others(37): Show 
HG00423.hp1
HG00558.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02717.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+5778T>A
c.580+5778T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76138108
chr5:76138114 C
C
 T
T
 13 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
others(10): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 13 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(10): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+5784C>T
c.580+5784C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76138114
chr5:76138138 G
G
 A
A
 1 a0001c0002t0151g0151
a0001c0002t0151g0151
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.580+5808G>A
c.580+5808G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76138138
chr5:76138141 G
G
 A
A
 13 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
others(10): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 13 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(10): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+5811G>A
c.580+5811G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76138141
chr5:76138149 T
T
 C
C
 13 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
others(10): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 13 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(10): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+5819T>C
c.580+5819T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76138149
chr5:76138261 T
T
 C
C
 13 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
others(10): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 13 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(10): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+5931T>C
c.580+5931T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76138261
chr5:76138302 C
C
 T
T
 3 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0002t0089g0081
 3 HG02965.hp1
NA19030.hp2
NA20300.hp1
HG02965.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.580+5972C>T
c.580+5972C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76138302
chr5:76138303 G
G
 A
A
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.580+5973G>A
c.580+5973G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76138303
chr5:76138505 A
A
 C
C
 13 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
others(10): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 13 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(10): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+6175A>C
c.580+6175A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76138505
chr5:76138812 T
T
 C
C
 13 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
others(10): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 13 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(10): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+6482T>C
c.580+6482T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76138812
chr5:76138849 C
C
 T
T
 106 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(103): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0229
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0013t0014g0119
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0067g0109
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0221
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 106 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(103): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+6519C>T
c.580+6519C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76138849
chr5:76138961 C
C
 A
A
 13 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
others(10): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 13 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(10): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+6631C>A
c.580+6631C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76138961
chr5:76139011 C
C
 T
T
 1 a0001c0002t0151g0151
a0001c0002t0151g0151
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.580+6681C>T
c.580+6681C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139011
chr5:76139012 A
A
 G
G
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+6682A>G
c.580+6682A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139012
chr5:76139043 C
C
 T
T
 13 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
others(10): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 13 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(10): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+6713C>T
c.580+6713C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139043
chr5:76139118 C
C
 CA
CA
 13 a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0070g0227
others(10): Show 
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0131g0181
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
a0003c0004t0009g0017
 13 HG00733.hp1
HG01109.hp1
HG02486.hp2
others(10): Show 
HG00733.hp1
HG01109.hp1
HG02486.hp2
HG02572.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03139.hp2
HG03471.hp1
HG03540.hp2
NA19043.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.580+6800dupA
c.580+6800dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76139118
chr5:76139118 CA
CA
 C
C
 48 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(45): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0080g0084
a0002c0003t0119g0187
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
 48 HG00423.hp1
HG00558.hp2
HG01496.hp1
others(45): Show 
HG00423.hp1
HG00558.hp2
HG01496.hp1
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+6800delA
c.580+6800delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76139118
chr5:76139240 CT
CT
 C
C
 2 a0001c0002t0036g0014
a0005c0011t0143g0015
a0001c0002t0036g0014
a0005c0011t0143g0015
 2 HG02280.hp2
HG02717.hp2
HG02280.hp2
HG02717.hp2
 intron_variant MODIFIER c.580+6911delT
c.580+6911delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139240
chr5:76139293 G
G
 A
A
 10 a0001c0001t0007g0122
a0001c0001t0070g0227
a0001c0001t0131g0181
others(7): Show 
a0001c0001t0007g0122
a0001c0001t0070g0227
a0001c0001t0131g0181
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
a0003c0004t0009g0017
 10 HG01109.hp1
HG02486.hp2
HG02723.hp1
others(7): Show 
HG01109.hp1
HG02486.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03139.hp2
HG03471.hp1
HG03540.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.580+6963G>A
c.580+6963G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139293
chr5:76139428 C
C
 G
G
 2 a0001c0002t0102g0234
a0002c0006t0147g0195
a0001c0002t0102g0234
a0002c0006t0147g0195
 2 HG01496.hp1
NA20905.hp1
HG01496.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+7098C>G
c.580+7098C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139428
chr5:76139449 T
T
 A
A
 13 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
others(10): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 13 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(10): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+7119T>A
c.580+7119T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139449
chr5:76139488 G
G
 A
A
 3 a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 3 HG00733.hp1
HG02572.hp2
NA21309.hp2
HG00733.hp1
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.580+7158G>A
c.580+7158G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139488
chr5:76139504 G
G
 T
T
 3 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0002t0089g0081
 3 HG02965.hp1
NA19030.hp2
NA20300.hp1
HG02965.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.580+7174G>T
c.580+7174G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139504
chr5:76139520 C
C
 T
T
 13 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
others(10): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 13 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(10): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+7190C>T
c.580+7190C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139520
chr5:76139543 G
G
 A
A
 13 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
others(10): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 13 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(10): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+7213G>A
c.580+7213G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139543
chr5:76139579 T
T
 A
A
 1 a0002c0006t0063g0053
a0002c0006t0063g0053
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.580+7249T>A
c.580+7249T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139579
chr5:76139655 C
C
 G
G
 1 a0001c0001t0008g0127
a0001c0001t0008g0127
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.580+7325C>G
c.580+7325C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139655
chr5:76139735 A
A
 G
G
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.580+7405A>G
c.580+7405A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139735
chr5:76139838 TTAGAAGC
others(111): Show 
TTAGAAGCTCTTGAAAGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACAG
AGTCTCACTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT
CGGCTCACTGCAAGCTCCG
 T
T
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+7526_580+7643d
others(2): Show 
c.580+7526_580+7643del
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76139838
chr5:76139850 G
G
 T
T
 1 a0001c0001t0137g0159
a0001c0001t0137g0159
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.580+7520G>T
c.580+7520G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139850
chr5:76139856 A
A
 AT
AT
 11 a0001c0001t0001g0039
a0001c0001t0002g0094
a0001c0001t0023g0131
others(8): Show 
a0001c0001t0001g0039
a0001c0001t0002g0094
a0001c0001t0023g0131
a0001c0001t0046g0050
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0002t0106g0210
a0001c0007t0007g0078
a0001c0015t0079g0087
a0002c0003t0044g0074
a0002c0003t0119g0187
 11 HG01928.hp1
HG02258.hp1
HG02572.hp2
others(8): Show 
HG01928.hp1
HG02258.hp1
HG02572.hp2
HG02976.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
NA19079.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+7550dupT
c.580+7550dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76139856
chr5:76139856 A
A
 ATT
ATT
 32 a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
others(29): Show 
a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0224
a0001c0001t0003g0171
a0001c0001t0004g0219
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0042g0072
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0015g0138
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0038g0066
a0003c0004t0057g0071
 32 HG00423.hp1
HG00558.hp2
HG00642.hp2
others(29): Show 
HG00423.hp1
HG00558.hp2
HG00642.hp2
HG01884.hp1
HG01981.hp1
HG02015.hp2
HG02451.hp1
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02922.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.580+7549_580+7550d
others(4): Show 
c.580+7549_580+7550dupTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76139856
chr5:76139856 A
A
 ATTT
ATTT
 10 a0001c0001t0001g0058
a0001c0001t0005g0099
a0001c0001t0022g0214
others(7): Show 
a0001c0001t0001g0058
a0001c0001t0005g0099
a0001c0001t0022g0214
a0001c0001t0040g0070
a0001c0001t0077g0212
a0001c0001t0092g0211
a0002c0003t0001g0026
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0091g0107
 10 HG00735.hp1
HG02083.hp1
HG02300.hp2
others(7): Show 
HG00735.hp1
HG02083.hp1
HG02300.hp2
HG02523.hp1
HG02630.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+7548_580+7550d
others(5): Show 
c.580+7548_580+7550dupTTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76139856
chr5:76139856 AT
AT
 A
A
 93 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(90): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0003g0185
a0001c0001t0004g0229
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0018g0067
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0128g0006
a0001c0001t0132g0009
a0001c0001t0137g0159
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0013t0014g0119
a0002c0003t0033g0169
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 93 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(90): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp2
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp2
HG02602.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03540.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+7550delT
c.580+7550delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76139856
chr5:76139918 G
G
 A
A
 32 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(29): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0015g0138
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0091g0107
 32 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(29): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+7588G>A
c.580+7588G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139918
chr5:76139956 G
G
 A
A
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+7626G>A
c.580+7626G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76139956
chr5:76140084 T
T
 A
A
 193 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(190): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 193 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(190): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+7754T>A
c.580+7754T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76140084
chr5:76140084 T
T
 G
G
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+7754T>G
c.580+7754T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76140084
chr5:76140093 A
A
 T
T
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+7763A>T
c.580+7763A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76140093
chr5:76140147 A
A
 G
G
 42 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(39): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0119g0187
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 42 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(39): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+7817A>G
c.580+7817A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76140147
chr5:76140198 T
T
 G
G
 3 a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0133g0157
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0133g0157
 3 HG04199.hp2
HG04204.hp1
NA18998.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
 intron_variant MODIFIER c.580+7868T>G
c.580+7868T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76140198
chr5:76140466 G
G
 A
A
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+8136G>A
c.580+8136G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76140466
chr5:76140564 A
A
 G
G
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+8234A>G
c.580+8234A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76140564
chr5:76140693 CT
CT
 C
C
 11 a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0070g0227
others(8): Show 
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
 11 HG00733.hp1
HG01109.hp1
HG02486.hp2
others(8): Show 
HG00733.hp1
HG01109.hp1
HG02486.hp2
HG02572.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
HG03540.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.580+8366delT
c.580+8366delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76140693
chr5:76140882 C
C
 T
T
 2 a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0009g0186
a0001c0002t0089g0081
 2 NA19030.hp2
NA20300.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.580+8552C>T
c.580+8552C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76140882
chr5:76140886 G
G
 C
C
 100 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(97): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0221
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 100 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(97): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01981.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+8556G>C
c.580+8556G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76140886
chr5:76140958 T
T
 A
A
 1 a0001c0001t0005g0162
a0001c0001t0005g0162
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.580+8628T>A
c.580+8628T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76140958
chr5:76141036 C
C
 T
T
 9 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
others(6): Show 
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0002t0006g0174
 9 HG00280.hp2
HG00738.hp2
HG01074.hp2
others(6): Show 
HG00280.hp2
HG00738.hp2
HG01074.hp2
HG01261.hp1
HG01433.hp2
HG02735.hp2
HG02818.hp1
HG02886.hp2
NA20905.hp2
 intron_variant MODIFIER c.580+8706C>T
c.580+8706C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76141036
chr5:76141114 A
A
 G
G
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+8784A>G
c.580+8784A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76141114
chr5:76141221 A
A
 G
G
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+8891A>G
c.580+8891A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76141221
chr5:76141378 C
C
 G
G
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+9048C>G
c.580+9048C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76141378
chr5:76141502 A
A
 G
G
 1 a0007c0014t0005g0180
a0007c0014t0005g0180
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.580+9172A>G
c.580+9172A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76141502
chr5:76141588 C
C
 T
T
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+9258C>T
c.580+9258C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76141588
chr5:76141635 C
C
 G
G
 32 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(29): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0015g0138
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0091g0107
 32 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(29): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+9305C>G
c.580+9305C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76141635
chr5:76141649 C
C
 A
A
 3 a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.580+9319C>A
c.580+9319C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76141649
chr5:76141685 G
G
 A
A
 1 a0002c0006t0095g0091
a0002c0006t0095g0091
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.580+9355G>A
c.580+9355G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76141685
chr5:76141779 A
A
 G
G
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+9449A>G
c.580+9449A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76141779
chr5:76141792 C
C
 G
G
 1 a0001c0001t0090g0106
a0001c0001t0090g0106
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.580+9462C>G
c.580+9462C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76141792
chr5:76141823 C
C
 CA
CA
 32 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
others(29): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0003c0004t0012g0222
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 32 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(29): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG03209.hp2
HG03471.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+9515dupA
c.580+9515dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76141823
chr5:76141823 CA
CA
 C
C
 76 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(73): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0171
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0121g0097
a0001c0001t0128g0006
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0029g0141
a0001c0002t0099g0132
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0119g0187
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 76 HG00423.hp1
HG00558.hp2
HG00642.hp2
others(73): Show 
HG00423.hp1
HG00558.hp2
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01106.hp1
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp2
HG02015.hp2
HG02055.hp2
HG02083.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18954.hp1
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+9515delA
c.580+9515delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76141823
chr5:76141823 CAA
CAA
 C
C
 80 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(77): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0012g0083
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0132g0009
a0001c0001t0137g0159
a0001c0002t0006g0174
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 80 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(77): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01243.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG03041.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18992.hp2
NA19005.hp1
NA19043.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+9514_580+9515d
others(4): Show 
c.580+9514_580+9515delAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76141823
chr5:76141872 AAAAT
AAAAT
 A
A
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+9549_580+9552d
others(6): Show 
c.580+9549_580+9552delATAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76141872
chr5:76142101 C
C
 T
T
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+9771C>T
c.580+9771C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76142101
chr5:76142224 A
A
 C
C
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+9894A>C
c.580+9894A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76142224
chr5:76142331 A
A
 G
G
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+10001A>G
c.580+10001A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76142331
chr5:76142415 G
G
 A
A
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+10085G>A
c.580+10085G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76142415
chr5:76142432 G
G
 A
A
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.580+10102G>A
c.580+10102G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76142432
chr5:76142512 G
G
 A
A
 3 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0002t0089g0081
 3 HG02965.hp1
NA19030.hp2
NA20300.hp1
HG02965.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.580+10182G>A
c.580+10182G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76142512
chr5:76142527 A
A
 G
G
 42 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(39): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0119g0187
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 42 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(39): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+10197A>G
c.580+10197A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76142527
chr5:76142598 T
T
 A
A
 1 a0003c0004t0139g0016
a0003c0004t0139g0016
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.580+10268T>A
c.580+10268T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76142598
chr5:76142599 C
C
 T
T
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 201 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(198): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+10269C>T
c.580+10269C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76142599
chr5:76142643 T
T
 C
C
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+10313T>C
c.580+10313T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76142643
chr5:76142713 A
A
 T
T
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+10383A>T
c.580+10383A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76142713
chr5:76142814 G
G
 T
T
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+10484G>T
c.580+10484G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76142814
chr5:76142903 C
C
 CTTTTTTT
others(9): Show 
CTTTTTTTTTTTTTTTT
 33 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(30): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0192
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 33 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(30): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG02109.hp1
HG02145.hp2
HG02698.hp2
HG02717.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+10582_580+1058
others(20): Show 
c.580+10582_580+10583insTTTTTTTTTTTTTTTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76142903
chr5:76142903 C
C
 CTTTTTTT
others(10): Show 
CTTTTTTTTTTTTTTTTT
 7 a0001c0002t0006g0177
a0001c0002t0006g0196
a0001c0002t0036g0176
others(4): Show 
a0001c0002t0006g0177
a0001c0002t0006g0196
a0001c0002t0036g0176
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0003c0004t0069g0022
 7 HG00733.hp2
HG01361.hp1
HG01891.hp1
others(4): Show 
HG00733.hp2
HG01361.hp1
HG01891.hp1
HG02257.hp1
HG02738.hp2
NA19030.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+10582_580+1058
others(21): Show 
c.580+10582_580+10583insTTTTTTTTTTTTTTTTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76142903
chr5:76142917 C
C
 T
T
 29 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(26): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0088g0123
a0001c0001t0157g0029
a0001c0002t0015g0138
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0119g0187
a0003c0004t0038g0066
a0003c0004t0057g0071
 29 HG00423.hp1
HG00558.hp2
HG01884.hp1
others(26): Show 
HG00423.hp1
HG00558.hp2
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02602.hp1
HG02630.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+10587C>T
c.580+10587C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76142917
chr5:76143080 A
A
 T
T
 2 a0001c0001t0141g0013
a0007c0014t0005g0180
a0001c0001t0141g0013
a0007c0014t0005g0180
 2 HG02055.hp2
HG03834.hp2
HG02055.hp2
HG03834.hp2
 intron_variant MODIFIER c.580+10750A>T
c.580+10750A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76143080
chr5:76143088 G
G
 A
A
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+10758G>A
c.580+10758G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76143088
chr5:76143184 A
A
 G
G
 82 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(79): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 82 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(79): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+10854A>G
c.580+10854A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76143184
chr5:76143185 C
C
 T
T
 1 a0007c0014t0005g0180
a0007c0014t0005g0180
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.580+10855C>T
c.580+10855C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76143185
chr5:76143375 A
A
 G
G
 203 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(200): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 203 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(200): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+11045A>G
c.580+11045A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76143375
chr5:76143397 C
C
 A
A
 41 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(38): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 41 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(38): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+11067C>A
c.580+11067C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76143397
chr5:76143635 A
A
 G
G
 45 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(42): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0081g0202
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 45 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(42): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+11305A>G
c.580+11305A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76143635
chr5:76143656 G
G
 T
T
 10 a0001c0001t0007g0122
a0001c0001t0070g0227
a0001c0001t0131g0181
others(7): Show 
a0001c0001t0007g0122
a0001c0001t0070g0227
a0001c0001t0131g0181
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
a0003c0004t0009g0017
 10 HG01109.hp1
HG02486.hp2
HG02723.hp1
others(7): Show 
HG01109.hp1
HG02486.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03139.hp2
HG03471.hp1
HG03540.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.580+11326G>T
c.580+11326G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76143656
chr5:76143788 A
A
 G
G
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+11458A>G
c.580+11458A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76143788
chr5:76143865 T
T
 G
G
 10 a0001c0001t0007g0122
a0001c0001t0070g0227
a0001c0001t0131g0181
others(7): Show 
a0001c0001t0007g0122
a0001c0001t0070g0227
a0001c0001t0131g0181
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
a0003c0004t0009g0017
 10 HG01109.hp1
HG02486.hp2
HG02723.hp1
others(7): Show 
HG01109.hp1
HG02486.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03139.hp2
HG03471.hp1
HG03540.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.580+11535T>G
c.580+11535T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76143865
chr5:76143907 C
C
 A
A
 1 a0002c0006t0095g0091
a0002c0006t0095g0091
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.580+11577C>A
c.580+11577C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76143907
chr5:76144013 G
G
 GC
GC
 42 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(39): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 42 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(39): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+11683_580+1168
others(5): Show 
c.580+11683_580+11684insC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144013
chr5:76144013 G
G
 GT
GT
 3 a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0081g0202
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0081g0202
 3 HG01255.hp2
HG01981.hp2
HG02280.hp1
HG01255.hp2
HG01981.hp2
HG02280.hp1
 intron_variant MODIFIER c.580+11683_580+1168
others(5): Show 
c.580+11683_580+11684insT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144013
chr5:76144070 C
C
 G
G
 45 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(42): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0081g0202
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 45 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(42): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+11740C>G
c.580+11740C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144070
chr5:76144071 G
G
 A
A
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.580+11741G>A
c.580+11741G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144071
chr5:76144099 C
C
 T
T
 2 a0001c0001t0001g0054
a0003c0004t0038g0066
a0001c0001t0001g0054
a0003c0004t0038g0066
 2 NA18981.hp1
NA18992.hp1
NA18981.hp1
NA18992.hp1
 intron_variant MODIFIER c.580+11769C>T
c.580+11769C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144099
chr5:76144113 A
A
 G
G
 1 a0001c0002t0145g0189
a0001c0002t0145g0189
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.580+11783A>G
c.580+11783A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144113
chr5:76144146 T
T
 C
C
 35 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(32): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0119g0187
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
 35 HG00423.hp1
HG00558.hp2
HG01884.hp1
others(32): Show 
HG00423.hp1
HG00558.hp2
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+11816T>C
c.580+11816T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144146
chr5:76144157 A
A
 T
T
 45 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(42): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0081g0202
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 45 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(42): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+11827A>T
c.580+11827A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144157
chr5:76144220 C
C
 G
G
 1 a0001c0001t0141g0013
a0001c0001t0141g0013
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.580+11890C>G
c.580+11890C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144220
chr5:76144274 GTGAAGC
GTGAAGC
 G
G
 45 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(42): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0081g0202
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 45 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(42): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+11948_580+1195
others(10): Show 
c.580+11948_580+11953delAGCTGA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76144274
chr5:76144293 A
A
 T
T
 3 a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0133g0157
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0133g0157
 3 HG04199.hp2
HG04204.hp1
NA18998.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
 intron_variant MODIFIER c.580+11963A>T
c.580+11963A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144293
chr5:76144305 C
C
 G
G
 45 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(42): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0081g0202
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 45 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(42): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA19030.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+11975C>G
c.580+11975C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144305
chr5:76144311 C
C
 T
T
 2 a0001c0002t0020g0073
a0002c0006t0062g0068
a0001c0002t0020g0073
a0002c0006t0062g0068
 2 NA18992.hp2
NA19063.hp1
NA18992.hp2
NA19063.hp1
 intron_variant MODIFIER c.580+11981C>T
c.580+11981C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144311
chr5:76144508 G
G
 C
C
 1 a0001c0001t0011g0065
a0001c0001t0011g0065
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.580+12178G>C
c.580+12178G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144508
chr5:76144523 C
C
 T
T
 35 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(32): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0119g0187
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
 35 HG00423.hp1
HG00558.hp2
HG01884.hp1
others(32): Show 
HG00423.hp1
HG00558.hp2
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+12193C>T
c.580+12193C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144523
chr5:76144530 A
A
 C
C
 195 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(192): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0165
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 195 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(192): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+12200A>C
c.580+12200A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144530
chr5:76144600 C
C
 T
T
 5 a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0150g0191
others(2): Show 
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0150g0191
a0001c0002t0151g0151
a0003c0005t0156g0193
 5 HG00140.hp1
HG00280.hp1
HG01109.hp2
others(2): Show 
HG00140.hp1
HG00280.hp1
HG01109.hp2
HG01168.hp1
HG01515.hp2
 intron_variant MODIFIER c.580+12270C>T
c.580+12270C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144600
chr5:76144716 A
A
 T
T
 10 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
others(7): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 10 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(7): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+12386A>T
c.580+12386A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144716
chr5:76144728 T
T
 C
C
 10 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
others(7): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 10 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(7): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+12398T>C
c.580+12398T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76144728
chr5:76144825 G
G
 GT
GT
 103 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(100): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0229
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0023g0102
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0013t0014g0119
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0067g0109
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 103 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(100): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+12504dupT
c.580+12504dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76144825
chr5:76144825 GT
GT
 G
G
 11 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
others(8): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0057g0071
a0003c0004t0066g0086
 11 HG01496.hp1
HG01884.hp1
HG02886.hp1
others(8): Show 
HG01496.hp1
HG01884.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+12504delT
c.580+12504delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76144825
chr5:76145097 A
A
 G
G
 35 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(32): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0119g0187
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
 35 HG00423.hp1
HG00558.hp2
HG01884.hp1
others(32): Show 
HG00423.hp1
HG00558.hp2
HG01884.hp1
HG01928.hp1
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+12767A>G
c.580+12767A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76145097
chr5:76145363 G
G
 A
A
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+13033G>A
c.580+13033G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76145363
chr5:76145402 A
A
 C
C
 87 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(84): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 87 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(84): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+13072A>C
c.580+13072A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76145402
chr5:76145462 C
C
 G
G
 8 a0001c0001t0007g0122
a0001c0001t0070g0227
a0001c0002t0093g0205
others(5): Show 
a0001c0001t0007g0122
a0001c0001t0070g0227
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
 8 HG01109.hp1
HG02486.hp2
HG02723.hp1
others(5): Show 
HG01109.hp1
HG02486.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.580+13132C>G
c.580+13132C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76145462
chr5:76145699 C
C
 G
G
 10 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
others(7): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 10 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(7): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+13369C>G
c.580+13369C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76145699
chr5:76145700 A
A
 C
C
 42 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(39): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0119g0187
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 42 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(39): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+13370A>C
c.580+13370A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76145700
chr5:76145769 C
C
 T
T
 2 a0004c0010t0027g0110
a0004c0010t0027g0111
a0004c0010t0027g0110
a0004c0010t0027g0111
 2 HG00741.hp2
HG01106.hp1
HG00741.hp2
HG01106.hp1
 intron_variant MODIFIER c.580+13439C>T
c.580+13439C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76145769
chr5:76145835 G
G
 A
A
 10 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
others(7): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 10 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(7): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+13505G>A
c.580+13505G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76145835
chr5:76146051 A
A
 G
G
 195 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(192): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0165
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 195 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(192): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+13721A>G
c.580+13721A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146051
chr5:76146062 G
G
 GGC
GGC
 10 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
others(7): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 10 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(7): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
NA19030.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+13732_580+1373
others(6): Show 
c.580+13732_580+13733insGC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146062
chr5:76146250 A
A
 G
G
 195 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(192): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0165
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 195 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(192): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+13920A>G
c.580+13920A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146250
chr5:76146278 C
C
 T
T
 8 a0001c0001t0007g0122
a0001c0001t0070g0227
a0001c0002t0093g0205
others(5): Show 
a0001c0001t0007g0122
a0001c0001t0070g0227
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
 8 HG01109.hp1
HG02486.hp2
HG02723.hp1
others(5): Show 
HG01109.hp1
HG02486.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.580+13948C>T
c.580+13948C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146278
chr5:76146451 A
A
 G
G
 42 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(39): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0119g0187
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 42 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(39): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+14121A>G
c.580+14121A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146451
chr5:76146506 T
T
 C
C
 70 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(67): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 70 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(67): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+14176T>C
c.580+14176T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146506
chr5:76146616 C
C
 T
T
 70 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(67): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 70 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(67): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+14286C>T
c.580+14286C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146616
chr5:76146788 G
G
 GT
GT
 20 a0001c0001t0001g0027
a0001c0001t0001g0059
a0001c0001t0002g0023
others(17): Show 
a0001c0001t0001g0027
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0018g0044
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0051g0035
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0177
a0001c0002t0015g0138
a0002c0003t0001g0026
a0002c0003t0044g0074
a0003c0004t0057g0071
 20 HG00423.hp1
HG01884.hp1
HG02109.hp1
others(17): Show 
HG00423.hp1
HG01884.hp1
HG02109.hp1
HG02257.hp1
HG02602.hp1
HG02630.hp1
HG03195.hp1
HG03704.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18951.hp2
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+14467dupT
c.580+14467dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76146788
chr5:76146788 GT
GT
 G
G
 6 a0001c0001t0007g0122
a0001c0002t0025g0232
a0001c0002t0109g0209
others(3): Show 
a0001c0001t0007g0122
a0001c0002t0025g0232
a0001c0002t0109g0209
a0002c0006t0095g0091
a0004c0010t0027g0110
a0004c0010t0027g0111
 6 HG00741.hp2
HG01106.hp1
HG01891.hp2
others(3): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp2
HG02486.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.580+14467delT
c.580+14467delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76146788
chr5:76146794 T
T
 TA
TA
 6 a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0126g0172
others(3): Show 
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0132g0009
a0001c0001t0137g0159
a0003c0004t0026g0147
 6 HG01884.hp2
HG02258.hp2
HG02300.hp1
others(3): Show 
HG01884.hp2
HG02258.hp2
HG02300.hp1
HG02572.hp1
HG02738.hp1
HG03041.hp1
 intron_variant MODIFIER c.580+14464_580+1446
others(5): Show 
c.580+14464_580+14465insA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146794
chr5:76146794 T
T
 TAA
TAA
 2 a0001c0001t0023g0102
a0002c0003t0021g0103
a0001c0001t0023g0102
a0002c0003t0021g0103
 2 NA19001.hp2
NA19005.hp2
NA19001.hp2
NA19005.hp2
 intron_variant MODIFIER c.580+14464_580+1446
others(6): Show 
c.580+14464_580+14465insAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146794
chr5:76146795 T
T
 A
A
 9 a0001c0001t0009g0190
a0001c0001t0023g0102
a0001c0001t0117g0012
others(6): Show 
a0001c0001t0009g0190
a0001c0001t0023g0102
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0132g0009
a0001c0001t0137g0159
a0002c0003t0021g0103
a0003c0004t0026g0147
 9 HG01884.hp2
HG02258.hp2
HG02300.hp1
others(6): Show 
HG01884.hp2
HG02258.hp2
HG02300.hp1
HG02572.hp1
HG02738.hp1
HG02809.hp2
HG03041.hp1
NA19001.hp2
NA19005.hp2
 intron_variant MODIFIER c.580+14465T>A
c.580+14465T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146795
chr5:76146795 T
T
 TA
TA
 13 a0001c0001t0001g0061
a0001c0001t0031g0179
a0001c0001t0043g0028
others(10): Show 
a0001c0001t0001g0061
a0001c0001t0031g0179
a0001c0001t0043g0028
a0001c0001t0082g0220
a0001c0001t0090g0106
a0001c0002t0006g0174
a0001c0002t0028g0129
a0001c0002t0036g0014
a0001c0002t0101g0144
a0002c0003t0049g0025
a0003c0004t0009g0017
a0003c0004t0039g0062
a0005c0011t0143g0015
 13 HG01261.hp1
HG01981.hp1
HG02280.hp2
others(10): Show 
HG01261.hp1
HG01981.hp1
HG02280.hp2
HG02523.hp2
HG02647.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
NA18906.hp2
NA19063.hp2
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.580+14465_580+1446
others(5): Show 
c.580+14465_580+14466insA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146795
chr5:76146795 T
T
 TAA
TAA
 31 a0001c0001t0003g0165
a0001c0001t0008g0104
a0001c0001t0032g0160
others(28): Show 
a0001c0001t0003g0165
a0001c0001t0008g0104
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0123g0002
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0067g0109
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0034g0173
 31 HG00558.hp1
HG00741.hp1
HG01496.hp2
others(28): Show 
HG00558.hp1
HG00741.hp1
HG01496.hp2
HG01943.hp1
HG02056.hp2
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18992.hp2
NA19005.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.580+14465_580+1446
others(6): Show 
c.580+14465_580+14466insAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146795
chr5:76146795 T
T
 TAAA
TAAA
 12 a0001c0001t0001g0031
a0001c0001t0008g0127
a0001c0001t0032g0004
others(9): Show 
a0001c0001t0001g0031
a0001c0001t0008g0127
a0001c0001t0032g0004
a0001c0001t0075g0115
a0001c0002t0111g0133
a0001c0002t0112g0116
a0002c0006t0061g0049
a0003c0004t0091g0107
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0155g0149
 12 HG00423.hp2
HG00735.hp1
HG01074.hp1
others(9): Show 
HG00423.hp2
HG00735.hp1
HG01074.hp1
HG01256.hp2
HG02015.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp2
NA18975.hp2
NA19056.hp2
NA19081.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+14465_580+1446
others(7): Show 
c.580+14465_580+14466insAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146795
chr5:76146795 T
T
 TAAAA
TAAAA
 3 a0001c0002t0098g0113
a0001c0002t0108g0120
a0003c0005t0115g0139
a0001c0002t0098g0113
a0001c0002t0108g0120
a0003c0005t0115g0139
 3 HG00642.hp1
HG02109.hp2
HG02602.hp2
HG00642.hp1
HG02109.hp2
HG02602.hp2
 intron_variant MODIFIER c.580+14465_580+1446
others(8): Show 
c.580+14465_580+14466insAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146795
chr5:76146796 T
T
 A
A
 78 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(75): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0229
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0023g0102
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0132g0009
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0067g0109
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0091g0107
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0005c0011t0143g0015
 78 HG00423.hp2
HG00558.hp1
HG00642.hp1
others(75): Show 
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01256.hp2
HG01261.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03540.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+14466T>A
c.580+14466T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146796
chr5:76146796 T
T
 TA
TA
 11 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0010g0037
others(8): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0010g0037
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0002t0102g0234
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0120g0005
 11 HG00280.hp2
HG00642.hp2
HG01243.hp2
others(8): Show 
HG00280.hp2
HG00642.hp2
HG01243.hp2
HG01496.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02922.hp2
HG03130.hp1
HG03486.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+14466_580+1446
others(5): Show 
c.580+14466_580+14467insA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146796
chr5:76146796 T
T
 TAA
TAA
 4 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0118g0018
others(1): Show 
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0118g0018
a0001c0007t0007g0078
 4 HG00738.hp2
HG01433.hp2
HG02886.hp2
others(1): Show 
HG00738.hp2
HG01433.hp2
HG02886.hp2
HG03225.hp2
 intron_variant MODIFIER c.580+14466_580+1446
others(6): Show 
c.580+14466_580+14467insAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146796
chr5:76146796 TTA
TTA
 T
T
 11 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(8): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0149g0019
a0002c0003t0080g0084
a0003c0004t0066g0086
 11 HG01109.hp1
HG02723.hp1
HG02886.hp1
others(8): Show 
HG01109.hp1
HG02723.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.580+14467_580+1446
others(6): Show 
c.580+14467_580+14468delTA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146796
chr5:76146797 T
T
 A
A
 102 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0224
others(99): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0012g0223
a0001c0001t0023g0102
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0132g0009
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0067g0109
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 102 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(99): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01243.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02922.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp2
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19081.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+14467T>A
c.580+14467T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146797
chr5:76146797 T
T
 TA
TA
 16 a0001c0001t0002g0094
a0001c0001t0011g0040
a0001c0001t0011g0065
others(13): Show 
a0001c0001t0002g0094
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0121g0097
a0001c0001t0128g0006
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0135
a0001c0002t0099g0132
a0001c0009t0134g0182
a0001c0013t0014g0119
a0003c0004t0005g0161
a0003c0004t0045g0048
 16 HG00735.hp2
HG01168.hp2
HG01261.hp2
others(13): Show 
HG00735.hp2
HG01168.hp2
HG01261.hp2
HG01928.hp2
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
NA18954.hp1
NA18960.hp1
NA18998.hp2
NA19083.hp1
NA19240.hp1
 intron_variant MODIFIER c.580+14490dupA
c.580+14490dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76146797
chr5:76146797 TA
TA
 T
T
 21 a0001c0001t0007g0093
a0001c0001t0009g0008
a0001c0001t0023g0131
others(18): Show 
a0001c0001t0007g0093
a0001c0001t0009g0008
a0001c0001t0023g0131
a0001c0001t0077g0212
a0001c0001t0125g0007
a0001c0001t0131g0181
a0001c0001t0135g0198
a0001c0002t0029g0141
a0001c0002t0150g0191
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0008t0002g0216
a0003c0004t0012g0222
a0003c0004t0139g0016
a0007c0014t0005g0180
 21 HG01168.hp1
HG01243.hp1
HG01255.hp1
others(18): Show 
HG01168.hp1
HG01243.hp1
HG01255.hp1
HG02055.hp1
HG02257.hp2
HG02523.hp1
HG02630.hp2
HG02717.hp1
HG02896.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03834.hp2
NA18522.hp2
NA18981.hp2
NA19030.hp1
NA19079.hp2
 intron_variant MODIFIER c.580+14490delA
c.580+14490delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76146797
chr5:76146798 A
A
 T
T
 35 a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
others(32): Show 
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0002g0024
a0001c0001t0003g0171
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0081g0202
a0001c0002t0006g0156
a0001c0002t0006g0196
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0008t0002g0221
a0003c0004t0038g0066
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 35 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(32): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00558.hp2
HG00733.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01928.hp1
HG01981.hp2
HG02015.hp2
HG02145.hp2
HG02280.hp1
HG02300.hp2
HG02559.hp2
HG02698.hp2
HG02738.hp2
HG03471.hp2
HG04184.hp2
NA18906.hp1
NA18955.hp2
NA18968.hp1
NA18981.hp1
NA18992.hp1
NA19068.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+14468A>T
c.580+14468A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146798
chr5:76146799 A
A
 T
T
 4 a0001c0001t0023g0131
a0001c0002t0150g0191
a0002c0003t0086g0088
others(1): Show 
a0001c0001t0023g0131
a0001c0002t0150g0191
a0002c0003t0086g0088
a0007c0014t0005g0180
 4 HG01168.hp1
HG02717.hp1
HG03834.hp2
others(1): Show 
HG01168.hp1
HG02717.hp1
HG03834.hp2
NA19079.hp2
 intron_variant MODIFIER c.580+14469A>T
c.580+14469A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146799
chr5:76146823 C
C
 A
A
 69 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(66): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 69 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(66): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+14493C>A
c.580+14493C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146823
chr5:76146963 T
T
 C
C
 2 a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0011g0056
a0001c0001t0022g0108
 2 HG00558.hp2
NA18968.hp1
HG00558.hp2
NA18968.hp1
 intron_variant MODIFIER c.580+14633T>C
c.580+14633T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76146963
chr5:76147046 T
T
 A
A
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+14716T>A
c.580+14716T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147046
chr5:76147059 G
G
 C
C
 2 a0001c0001t0121g0097
a0001c0013t0014g0119
a0001c0001t0121g0097
a0001c0013t0014g0119
 2 NA18998.hp2
NA19083.hp1
NA18998.hp2
NA19083.hp1
 intron_variant MODIFIER c.580+14729G>C
c.580+14729G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147059
chr5:76147318 C
C
 CTT
CTT
 77 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(74): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 77 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(74): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+14989_580+1499
others(6): Show 
c.580+14989_580+14990dupTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76147318
chr5:76147354 C
C
 T
T
 3 a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0081g0202
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0081g0202
 3 HG01255.hp2
HG01981.hp2
HG02280.hp1
HG01255.hp2
HG01981.hp2
HG02280.hp1
 intron_variant MODIFIER c.580+15024C>T
c.580+15024C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147354
chr5:76147403 T
T
 C
C
 77 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(74): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 77 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(74): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+15073T>C
c.580+15073T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147403
chr5:76147464 T
T
 TCTGTGC
TCTGTGC
 32 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(29): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0015g0138
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0091g0107
 32 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(29): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+15136_580+1514
others(10): Show 
c.580+15136_580+15141dupTGTGCC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76147464
chr5:76147639 A
A
 C
C
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.580+15309A>C
c.580+15309A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147639
chr5:76147639 A
A
 G
G
 202 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(199): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 202 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(199): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+15309A>G
c.580+15309A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147639
chr5:76147661 T
T
 C
C
 42 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(39): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0119g0187
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 42 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(39): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+15331T>C
c.580+15331T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147661
chr5:76147663 A
A
 G
G
 42 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(39): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0119g0187
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 42 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(39): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+15333A>G
c.580+15333A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147663
chr5:76147742 G
G
 A
A
 1 a0002c0006t0147g0195
a0002c0006t0147g0195
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.580+15412G>A
c.580+15412G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147742
chr5:76147743 T
T
 C
C
 1 a0001c0002t0006g0177
a0001c0002t0006g0177
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.580+15413T>C
c.580+15413T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147743
chr5:76147759 A
A
 G
G
 77 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(74): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 77 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(74): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+15429A>G
c.580+15429A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147759
chr5:76147761 A
A
 ATT
ATT
 3 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0002t0089g0081
 3 HG02965.hp1
NA19030.hp2
NA20300.hp1
HG02965.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.580+15433_580+1543
others(6): Show 
c.580+15433_580+15434dupTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76147761
chr5:76147812 G
G
 T
T
 34 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
others(31): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
a0001c0001t0081g0202
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0008t0002g0221
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 34 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(31): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG03471.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+15482G>T
c.580+15482G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147812
chr5:76147857 C
C
 T
T
 77 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(74): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 77 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(74): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+15527C>T
c.580+15527C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147857
chr5:76147864 A
A
 G
G
 233 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(230): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 233 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(230): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+15534A>G
c.580+15534A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147864
chr5:76147888 C
C
 T
T
 35 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
others(32): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
a0001c0001t0081g0202
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0008t0002g0221
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 35 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(32): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG03471.hp2
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+15558C>T
c.580+15558C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147888
chr5:76147891 T
T
 A
A
 77 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(74): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 77 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(74): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+15561T>A
c.580+15561T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147891
chr5:76147905 C
C
 G
G
 77 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(74): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 77 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(74): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+15575C>G
c.580+15575C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147905
chr5:76147981 T
T
 C
C
 1 a0002c0006t0147g0195
a0002c0006t0147g0195
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.580+15651T>C
c.580+15651T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76147981
chr5:76148378 A
A
 C
C
 77 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(74): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 77 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(74): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+16048A>C
c.580+16048A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76148378
chr5:76148514 G
G
 A
A
 82 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(79): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 82 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(79): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+16184G>A
c.580+16184G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76148514
chr5:76148537 C
C
 T
T
 1 a0002c0003t0129g0188
a0002c0003t0129g0188
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.580+16207C>T
c.580+16207C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76148537
chr5:76148623 A
A
 T
T
 81 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(78): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 81 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(78): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+16293A>T
c.580+16293A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76148623
chr5:76148685 C
C
 A
A
 34 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
others(31): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
a0001c0001t0081g0202
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0008t0002g0221
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 34 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(31): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG03471.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+16355C>A
c.580+16355C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76148685
chr5:76148735 G
G
 A
A
 1 a0001c0002t0145g0189
a0001c0002t0145g0189
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.580+16405G>A
c.580+16405G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76148735
chr5:76148826 A
A
 T
T
 5 a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
others(2): Show 
a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
 5 HG02486.hp1
HG03098.hp1
HG03139.hp1
others(2): Show 
HG02486.hp1
HG03098.hp1
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.580+16496A>T
c.580+16496A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76148826
chr5:76148858 A
A
 G
G
 82 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(79): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 82 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(79): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+16528A>G
c.580+16528A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76148858
chr5:76148903 C
C
 G
G
 1 a0001c0001t0004g0080
a0001c0001t0004g0080
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.580+16573C>G
c.580+16573C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76148903
chr5:76148903 C
C
 T
T
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.580+16573C>T
c.580+16573C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76148903
chr5:76149062 T
T
 C
C
 1 a0001c0002t0015g0135
a0001c0002t0015g0135
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.580+16732T>C
c.580+16732T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76149062
chr5:76149128 TG
TG
 T
T
 3 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0002t0089g0081
 3 HG02965.hp1
NA19030.hp2
NA20300.hp1
HG02965.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.580+16799delG
c.580+16799delG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76149128
chr5:76149130 C
C
 A
A
 3 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0002t0089g0081
a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0002t0089g0081
 3 HG02965.hp1
NA19030.hp2
NA20300.hp1
HG02965.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.580+16800C>A
c.580+16800C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76149130
chr5:76149275 T
T
 C
C
 33 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(30): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0015g0138
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0091g0107
 33 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(30): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+16945T>C
c.580+16945T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76149275
chr5:76149281 C
C
 T
T
 1 a0001c0002t0006g0174
a0001c0002t0006g0174
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.580+16951C>T
c.580+16951C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76149281
chr5:76149381 C
C
 T
T
 1 a0002c0006t0095g0091
a0002c0006t0095g0091
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.580+17051C>T
c.580+17051C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76149381
chr5:76149427 A
A
 G
G
 6 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0083
others(3): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0083
a0001c0001t0012g0223
a0002c0008t0002g0218
a0002c0008t0007g0225
 6 HG00642.hp2
HG02451.hp1
HG02559.hp1
others(3): Show 
HG00642.hp2
HG02451.hp1
HG02559.hp1
HG02615.hp2
HG02647.hp1
HG02922.hp2
 intron_variant MODIFIER c.580+17097A>G
c.580+17097A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76149427
chr5:76149468 T
T
 C
C
 9 a0001c0001t0007g0122
a0001c0001t0070g0227
a0001c0001t0131g0181
others(6): Show 
a0001c0001t0007g0122
a0001c0001t0070g0227
a0001c0001t0131g0181
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
 9 HG01109.hp1
HG02486.hp2
HG02723.hp1
others(6): Show 
HG01109.hp1
HG02486.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03139.hp2
HG03471.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.580+17138T>C
c.580+17138T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76149468
chr5:76149521 A
A
 G
G
 1 a0002c0003t0129g0188
a0002c0003t0129g0188
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.580+17191A>G
c.580+17191A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76149521
chr5:76149599 T
T
 C
C
 84 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(81): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 84 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(81): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+17269T>C
c.580+17269T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76149599
chr5:76149600 T
T
 C
C
 37 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
others(34): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0041g0036
a0001c0001t0051g0035
a0001c0001t0081g0202
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0008t0002g0221
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 37 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(34): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG03471.hp2
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+17270T>C
c.580+17270T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76149600
chr5:76149696 C
C
 T
T
 84 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(81): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 84 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(81): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+17366C>T
c.580+17366C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76149696
chr5:76149698 C
C
 T
T
 36 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
others(33): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0041g0036
a0001c0001t0051g0035
a0001c0001t0081g0202
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0008t0002g0221
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 36 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(33): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG03471.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+17368C>T
c.580+17368C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76149698
chr5:76149894 A
A
 T
T
 1 a0001c0001t0138g0150
a0001c0001t0138g0150
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.580+17564A>T
c.580+17564A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76149894
chr5:76150044 G
G
 A
A
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.580+17714G>A
c.580+17714G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150044
chr5:76150100 C
C
 T
T
 84 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(81): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 84 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(81): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+17770C>T
c.580+17770C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150100
chr5:76150198 C
C
 CT
CT
 7 a0001c0001t0011g0040
a0001c0001t0023g0131
a0001c0001t0046g0050
others(4): Show 
a0001c0001t0011g0040
a0001c0001t0023g0131
a0001c0001t0046g0050
a0001c0001t0088g0123
a0001c0001t0128g0006
a0001c0002t0013g0082
a0002c0003t0119g0187
 7 HG02258.hp1
HG02451.hp2
HG02723.hp2
others(4): Show 
HG02258.hp1
HG02451.hp2
HG02723.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp2
NA19079.hp2
 intron_variant MODIFIER c.580+17884dupT
c.580+17884dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76150198
chr5:76150198 CT
CT
 C
C
 19 a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0013g0085
others(16): Show 
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0075g0115
a0001c0002t0020g0073
a0001c0002t0028g0129
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 19 HG01109.hp1
HG01496.hp1
HG02486.hp2
others(16): Show 
HG01109.hp1
HG01496.hp1
HG02486.hp2
HG02723.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG03041.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp2
NA19043.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
 intron_variant MODIFIER c.580+17884delT
c.580+17884delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76150198
chr5:76150205 T
T
 TC
TC
 37 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
others(34): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0041g0036
a0001c0001t0051g0035
a0001c0001t0081g0202
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0008t0002g0221
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 37 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(34): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG03471.hp2
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+17875_580+1787
others(5): Show 
c.580+17875_580+17876insC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150205
chr5:76150222 A
A
 G
G
 1 a0002c0006t0095g0091
a0002c0006t0095g0091
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.580+17892A>G
c.580+17892A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150222
chr5:76150237 G
G
 C
C
 84 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(81): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 84 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(81): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+17907G>C
c.580+17907G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150237
chr5:76150260 T
T
 C
C
 84 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(81): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 84 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(81): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+17930T>C
c.580+17930T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150260
chr5:76150337 C
C
 G
G
 30 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
others(27): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
a0001c0001t0041g0036
a0001c0001t0081g0202
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0086g0088
a0002c0003t0087g0021
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 30 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(27): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG03471.hp2
HG04184.hp2
NA18906.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+18007C>G
c.580+18007C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150337
chr5:76150405 C
C
 T
T
 2 a0001c0002t0025g0232
a0001c0002t0109g0209
a0001c0002t0025g0232
a0001c0002t0109g0209
 2 HG01891.hp2
HG02809.hp1
HG01891.hp2
HG02809.hp1
 intron_variant MODIFIER c.580+18075C>T
c.580+18075C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150405
chr5:76150435 C
C
 A
A
 1 a0003c0004t0009g0017
a0003c0004t0009g0017
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.580+18105C>A
c.580+18105C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150435
chr5:76150454 G
G
 A
A
 32 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(29): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0157g0029
a0001c0002t0015g0138
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0091g0107
 32 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(29): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+18124G>A
c.580+18124G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150454
chr5:76150464 C
C
 T
T
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.580+18134C>T
c.580+18134C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150464
chr5:76150472 A
A
 G
G
 85 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(82): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 85 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+18142A>G
c.580+18142A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150472
chr5:76150605 C
C
 A
A
 36 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
others(33): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0041g0036
a0001c0001t0051g0035
a0001c0001t0081g0202
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0008t0002g0221
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
 36 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(33): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG03471.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+18275C>A
c.580+18275C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150605
chr5:76150626 C
C
 CT
CT
 47 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0224
others(44): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0130
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0041g0036
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0081g0202
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0069g0022
a0003c0005t0156g0193
a0007c0014t0005g0180
 47 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(44): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00642.hp2
HG00733.hp2
HG01074.hp2
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02257.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02922.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
NA18906.hp1
NA18990.hp1
NA18998.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19240.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+18325dupT
c.580+18325dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76150626
chr5:76150626 C
C
 CTT
CTT
 29 a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0058
others(26): Show 
a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0022g0108
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0090g0106
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0192
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0007t0004g0075
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0059g0043
a0002c0003t0067g0109
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0005t0116g0126
 29 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(26): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG00738.hp1
HG01109.hp2
HG01361.hp1
HG01884.hp1
HG01981.hp1
HG02015.hp2
HG02145.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02602.hp1
HG02630.hp1
HG03195.hp1
HG03225.hp2
HG04204.hp1
HG04228.hp2
NA18951.hp2
NA18975.hp1
NA18981.hp1
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.580+18324_580+1832
others(6): Show 
c.580+18324_580+18325dupTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76150626
chr5:76150626 C
C
 CTTT
CTTT
 6 a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0003g0171
others(3): Show 
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0003g0171
a0001c0001t0011g0056
a0001c0001t0023g0102
a0002c0003t0044g0074
 6 HG01928.hp1
NA18955.hp2
NA18968.hp1
others(3): Show 
HG01928.hp1
NA18955.hp2
NA18968.hp1
NA18992.hp1
NA19001.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+18323_580+1832
others(7): Show 
c.580+18323_580+18325dupTTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76150626
chr5:76150626 C
C
 CTTTT
CTTTT
 5 a0001c0001t0003g0185
a0001c0001t0005g0162
a0001c0001t0018g0067
others(2): Show 
a0001c0001t0003g0185
a0001c0001t0005g0162
a0001c0001t0018g0067
a0003c0004t0005g0161
a0003c0005t0019g0060
 5 HG01943.hp1
HG01943.hp2
HG02056.hp1
others(2): Show 
HG01943.hp1
HG01943.hp2
HG02056.hp1
HG03704.hp2
NA18960.hp1
 intron_variant MODIFIER c.580+18322_580+1832
others(8): Show 
c.580+18322_580+18325dupTTTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76150626
chr5:76150626 CT
CT
 C
C
 21 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0025g0231
others(18): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0025g0231
a0001c0001t0130g0010
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0089g0081
a0001c0002t0098g0113
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0015t0079g0087
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0095g0091
a0003c0004t0016g0166
a0003c0004t0039g0062
a0003c0004t0139g0016
a0004c0010t0027g0111
 21 HG00741.hp1
HG00741.hp2
HG01255.hp1
others(18): Show 
HG00741.hp1
HG00741.hp2
HG01255.hp1
HG01891.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02145.hp1
HG02523.hp2
HG02615.hp1
HG02809.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03209.hp1
HG03225.hp1
NA18522.hp2
NA18906.hp2
NA18992.hp2
NA19030.hp2
 intron_variant MODIFIER c.580+18325delT
c.580+18325delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76150626
chr5:76150626 CTT
CTT
 C
C
 68 a0001c0001t0002g0094
a0001c0001t0003g0165
a0001c0001t0008g0127
others(65): Show 
a0001c0001t0002g0094
a0001c0001t0003g0165
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0026g0147
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0005c0011t0143g0015
 68 HG00423.hp2
HG00558.hp1
HG00642.hp1
others(65): Show 
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG01074.hp1
HG01106.hp1
HG01168.hp2
HG01243.hp2
HG01256.hp2
HG01261.hp2
HG01496.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02083.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18998.hp2
NA19005.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+18324_580+1832
others(6): Show 
c.580+18324_580+18325delTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76150626
chr5:76150626 CTTT
CTTT
 C
C
 15 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
others(12): Show 
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0068g0092
a0001c0002t0060g0052
a0001c0002t0101g0144
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 15 HG00280.hp2
HG00735.hp2
HG00738.hp2
others(12): Show 
HG00280.hp2
HG00735.hp2
HG00738.hp2
HG01433.hp2
HG01496.hp1
HG02735.hp1
HG02735.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG03209.hp2
NA19084.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.580+18323_580+1832
others(7): Show 
c.580+18323_580+18325delTTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76150626
chr5:76150626 CTTTTTT
CTTTTTT
 C
C
 7 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0084g0090
others(4): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 7 HG02083.hp1
HG02523.hp1
HG02572.hp2
others(4): Show 
HG02083.hp1
HG02523.hp1
HG02572.hp2
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+18320_580+1832
others(10): Show 
c.580+18320_580+18325delTTTTTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76150626
chr5:76150671 TCTGTTGC
others(9): Show 
TCTGTTGCCCAGGCTGG
 T
T
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.580+18342_580+1835
others(20): Show 
c.580+18342_580+18357delCTGTTGCCCAGGCTGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150671
chr5:76150714 T
T
 C
C
 48 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(45): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0119g0187
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 48 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(45): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+18384T>C
c.580+18384T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150714
chr5:76150787 A
A
 G
G
 85 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(82): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 85 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+18457A>G
c.580+18457A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150787
chr5:76150846 T
T
 C
C
 85 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(82): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 85 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+18516T>C
c.580+18516T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150846
chr5:76150863 C
C
 T
T
 14 a0001c0001t0011g0040
a0001c0001t0047g0046
a0001c0001t0048g0047
others(11): Show 
a0001c0001t0011g0040
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0121g0097
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0135
a0001c0002t0029g0141
a0001c0002t0099g0132
a0001c0013t0014g0119
a0003c0004t0045g0048
 14 HG00735.hp2
HG01168.hp2
HG01255.hp1
others(11): Show 
HG00735.hp2
HG01168.hp2
HG01255.hp1
HG01261.hp2
HG02145.hp1
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp2
NA18998.hp2
NA19083.hp1
NA19240.hp1
 intron_variant MODIFIER c.580+18533C>T
c.580+18533C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150863
chr5:76150898 A
A
 G
G
 85 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(82): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 85 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+18568A>G
c.580+18568A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150898
chr5:76150903 G
G
 C
C
 1 a0001c0002t0089g0081
a0001c0002t0089g0081
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.580+18573G>C
c.580+18573G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76150903
chr5:76151014 T
T
 C
C
 85 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(82): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 85 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+18684T>C
c.580+18684T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151014
chr5:76151058 A
A
 T
T
 48 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(45): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0119g0187
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 48 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(45): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+18728A>T
c.580+18728A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151058
chr5:76151111 A
A
 G
G
 1 a0001c0002t0148g0158
a0001c0002t0148g0158
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.580+18781A>G
c.580+18781A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151111
chr5:76151181 G
G
 C
C
 4 a0001c0001t0040g0070
a0001c0001t0042g0072
a0002c0003t0044g0074
others(1): Show 
a0001c0001t0040g0070
a0001c0001t0042g0072
a0002c0003t0044g0074
a0003c0004t0057g0071
 4 HG01884.hp1
HG02630.hp1
HG03195.hp1
others(1): Show 
HG01884.hp1
HG02630.hp1
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+18851G>C
c.580+18851G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151181
chr5:76151298 C
C
 A
A
 85 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(82): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 85 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+18968C>A
c.580+18968C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151298
chr5:76151343 T
T
 C
C
 1 a0007c0014t0005g0180
a0007c0014t0005g0180
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.580+19013T>C
c.580+19013T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151343
chr5:76151407 A
A
 C
C
 37 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
others(34): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0041g0036
a0001c0001t0051g0035
a0001c0001t0081g0202
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0008t0002g0221
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 37 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(34): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG03471.hp2
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+19077A>C
c.580+19077A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151407
chr5:76151436 G
G
 T
T
 5 a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
others(2): Show 
a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
 5 HG02486.hp1
HG03098.hp1
HG03139.hp1
others(2): Show 
HG02486.hp1
HG03098.hp1
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.580+19106G>T
c.580+19106G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151436
chr5:76151445 T
T
 C
C
 85 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(82): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 85 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(82): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+19115T>C
c.580+19115T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151445
chr5:76151519 T
T
 G
G
 7 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0083
others(4): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0007t0007g0078
a0002c0008t0002g0218
a0002c0008t0007g0225
 7 HG00642.hp2
HG02451.hp1
HG02559.hp1
others(4): Show 
HG00642.hp2
HG02451.hp1
HG02559.hp1
HG02615.hp2
HG02647.hp1
HG02922.hp2
HG03225.hp2
 intron_variant MODIFIER c.580+19189T>G
c.580+19189T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151519
chr5:76151640 G
G
 A
A
 2 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0001t0004g0080
a0001c0002t0009g0186
 2 HG02965.hp1
NA20300.hp1
HG02965.hp1
NA20300.hp1
 intron_variant MODIFIER c.580+19310G>A
c.580+19310G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151640
chr5:76151672 G
G
 A
A
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+19342G>A
c.580+19342G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151672
chr5:76151673 A
A
 C
C
 86 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(83): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 86 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+19343A>C
c.580+19343A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151673
chr5:76151689 C
C
 T
T
 8 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(5): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0074g0208
a0002c0003t0049g0025
a0002c0003t0080g0084
a0003c0004t0039g0062
a0003c0004t0066g0086
 8 HG02647.hp2
HG02886.hp1
HG02895.hp2
others(5): Show 
HG02647.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.580+19359C>T
c.580+19359C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151689
chr5:76151710 T
T
 G
G
 86 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(83): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 86 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+19380T>G
c.580+19380T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76151710
chr5:76151813 GCCA
GCCA
 G
G
 86 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(83): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0133g0157
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0221
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 86 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(83): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03704.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+19486_580+1948
others(7): Show 
c.580+19486_580+19488delACC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76151813
chr5:76152006 C
C
 A
A
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.580+19676C>A
c.580+19676C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76152006
chr5:76152136 G
G
 A
A
 1 a0001c0001t0157g0029
a0001c0001t0157g0029
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.580+19806G>A
c.580+19806G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76152136
chr5:76152221 G
G
 C
C
 37 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
others(34): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0041g0036
a0001c0001t0051g0035
a0001c0001t0081g0202
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0008t0002g0221
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 37 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(34): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02738.hp2
HG03471.hp2
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+19891G>C
c.580+19891G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76152221
chr5:76152369 C
C
 A
A
 2 a0001c0002t0102g0234
a0002c0006t0147g0195
a0001c0002t0102g0234
a0002c0006t0147g0195
 2 HG01496.hp1
NA20905.hp1
HG01496.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+20039C>A
c.580+20039C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76152369
chr5:76152512 T
T
 C
C
 1 a0002c0003t0013g0226
a0002c0003t0013g0226
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.580+20182T>C
c.580+20182T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76152512
chr5:76152639 A
A
 T
T
 1 a0001c0001t0051g0035
a0001c0001t0051g0035
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.580+20309A>T
c.580+20309A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76152639
chr5:76152781 C
C
 G
G
 2 a0001c0002t0025g0232
a0001c0002t0109g0209
a0001c0002t0025g0232
a0001c0002t0109g0209
 2 HG01891.hp2
HG02809.hp1
HG01891.hp2
HG02809.hp1
 intron_variant MODIFIER c.580+20451C>G
c.580+20451C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76152781
chr5:76152858 A
A
 G
G
 155 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0023
others(152): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0141g0013
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 155 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(152): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+20528A>G
c.580+20528A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76152858
chr5:76152906 T
T
 C
C
 105 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(102): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 105 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(102): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+20576T>C
c.580+20576T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76152906
chr5:76152907 G
G
 A
A
 102 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(99): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 102 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(99): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+20577G>A
c.580+20577G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76152907
chr5:76152909 A
A
 C
C
 3 a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0133g0157
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0133g0157
 3 HG04199.hp2
HG04204.hp1
NA18998.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
 intron_variant MODIFIER c.580+20579A>C
c.580+20579A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76152909
chr5:76153020 A
A
 G
G
 105 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(102): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 105 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(102): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+20690A>G
c.580+20690A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76153020
chr5:76153300 T
T
 C
C
 105 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(102): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 105 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(102): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+20970T>C
c.580+20970T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76153300
chr5:76153436 T
T
 C
C
 1 a0001c0001t0004g0080
a0001c0001t0004g0080
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.580+21106T>C
c.580+21106T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76153436
chr5:76153578 G
G
 A
A
 2 a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0054g0063
a0001c0001t0055g0064
 2 NA18951.hp2
NA18975.hp1
NA18951.hp2
NA18975.hp1
 intron_variant MODIFIER c.580+21248G>A
c.580+21248G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76153578
chr5:76153592 C
C
 G
G
 1 a0001c0001t0141g0013
a0001c0001t0141g0013
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.580+21262C>G
c.580+21262C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76153592
chr5:76153736 G
G
 C
C
 194 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(191): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0165
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 194 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(191): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+21406G>C
c.580+21406G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76153736
chr5:76153778 G
G
 T
T
 6 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0083
others(3): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0083
a0001c0001t0012g0223
a0002c0008t0002g0218
a0002c0008t0007g0225
 6 HG00642.hp2
HG02451.hp1
HG02559.hp1
others(3): Show 
HG00642.hp2
HG02451.hp1
HG02559.hp1
HG02615.hp2
HG02647.hp1
HG02922.hp2
 intron_variant MODIFIER c.580+21448G>T
c.580+21448G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76153778
chr5:76153802 A
A
 G
G
 1 a0003c0004t0012g0222
a0003c0004t0012g0222
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.580+21472A>G
c.580+21472A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76153802
chr5:76153810 A
A
 G
G
 40 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
others(37): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
a0001c0001t0081g0202
a0001c0001t0131g0181
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0154g0197
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0008t0002g0221
a0003c0004t0009g0017
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
 40 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(37): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.580+21480A>G
c.580+21480A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76153810
chr5:76153858 A
A
 G
G
 233 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(230): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 233 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(230): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+21528A>G
c.580+21528A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76153858
chr5:76153885 G
G
 A
A
 49 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
others(46): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0081g0202
a0001c0001t0131g0181
a0001c0001t0133g0157
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0154g0197
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0004t0009g0017
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
 49 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(46): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
NA18906.hp1
NA18998.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.580+21555G>A
c.580+21555G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76153885
chr5:76153908 T
T
 A
A
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+21578T>A
c.580+21578T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76153908
chr5:76153989 C
C
 G
G
 151 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0023
others(148): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0141g0013
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 151 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(148): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19007.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+21659C>G
c.580+21659C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76153989
chr5:76154030 G
G
 A
A
 1 a0001c0001t0004g0080
a0001c0001t0004g0080
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.580+21700G>A
c.580+21700G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76154030
chr5:76154061 A
A
 G
G
 1 a0001c0001t0138g0150
a0001c0001t0138g0150
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.580+21731A>G
c.580+21731A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76154061
chr5:76154170 C
C
 T
T
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+21840C>T
c.580+21840C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76154170
chr5:76154279 C
C
 A
A
 1 a0001c0001t0050g0041
a0001c0001t0050g0041
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.580+21949C>A
c.580+21949C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76154279
chr5:76154302 A
A
 G
G
 105 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(102): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 105 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(102): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+21972A>G
c.580+21972A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76154302
chr5:76154548 A
A
 G
G
 96 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(93): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 96 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(93): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+22218A>G
c.580+22218A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76154548
chr5:76154687 G
G
 A
A
 105 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(102): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 105 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(102): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+22357G>A
c.580+22357G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76154687
chr5:76154871 G
G
 C
C
 105 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(102): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 105 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(102): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+22541G>C
c.580+22541G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76154871
chr5:76155130 T
T
 A
A
 5 a0001c0001t0131g0181
a0001c0002t0100g0206
a0001c0002t0103g0148
others(2): Show 
a0001c0001t0131g0181
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
 5 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(2): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03139.hp2
HG03471.hp1
 intron_variant MODIFIER c.580+22800T>A
c.580+22800T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76155130
chr5:76155164 T
T
 C
C
 105 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(102): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 105 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(102): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+22834T>C
c.580+22834T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76155164
chr5:76155251 G
G
 A
A
 2 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0001t0004g0080
a0001c0002t0009g0186
 2 HG02965.hp1
NA20300.hp1
HG02965.hp1
NA20300.hp1
 intron_variant MODIFIER c.580+22921G>A
c.580+22921G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76155251
chr5:76155522 C
C
 T
T
 1 a0001c0001t0041g0036
a0001c0001t0041g0036
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.580+23192C>T
c.580+23192C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76155522
chr5:76155565 C
C
 A
A
 2 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0001t0004g0080
a0001c0002t0009g0186
 2 HG02965.hp1
NA20300.hp1
HG02965.hp1
NA20300.hp1
 intron_variant MODIFIER c.580+23235C>A
c.580+23235C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76155565
chr5:76155942 CA
CA
 C
C
 33 a0001c0001t0002g0224
a0001c0001t0003g0185
a0001c0001t0004g0219
others(30): Show 
a0001c0001t0002g0224
a0001c0001t0003g0185
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0074g0208
a0001c0001t0090g0106
a0001c0002t0006g0196
a0001c0002t0015g0121
a0001c0002t0029g0141
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0152g0199
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0013g0226
a0002c0003t0049g0025
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0039g0062
a0003c0004t0091g0107
a0003c0004t0139g0016
a0004c0010t0027g0110
a0004c0010t0027g0111
 33 HG00642.hp2
HG00735.hp1
HG00741.hp2
others(30): Show 
HG00642.hp2
HG00735.hp1
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp2
HG01361.hp1
HG01943.hp2
HG01981.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp2
HG03471.hp1
HG03540.hp1
HG04204.hp2
NA18522.hp2
NA18906.hp2
NA18955.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.580+23639delA
c.580+23639delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76155942
chr5:76155942 CAA
CAA
 C
C
 136 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(133): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0165
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0075g0115
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0151g0151
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0221
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 136 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(133): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03486.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+23638_580+2363
others(6): Show 
c.580+23638_580+23639delAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76155942
chr5:76155942 CAAA
CAAA
 C
C
 21 a0001c0001t0010g0033
a0001c0001t0018g0044
a0001c0001t0022g0214
others(18): Show 
a0001c0001t0010g0033
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0051g0035
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0133g0157
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0037g0194
a0001c0002t0150g0191
a0001c0009t0076g0213
a0002c0003t0059g0043
a0003c0004t0019g0145
a0003c0004t0045g0048
a0003c0004t0058g0051
 21 HG00735.hp2
HG00738.hp2
HG01168.hp1
others(18): Show 
HG00735.hp2
HG00738.hp2
HG01168.hp1
HG01168.hp2
HG01515.hp2
HG02015.hp2
HG02083.hp1
HG02145.hp1
HG02523.hp1
HG02970.hp1
HG03098.hp2
HG04199.hp2
HG04204.hp1
NA18998.hp1
NA19007.hp1
NA19072.hp2
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.580+23637_580+2363
others(7): Show 
c.580+23637_580+23639delAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76155942
chr5:76155942 CAAAA
CAAAA
 C
C
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+23636_580+2363
others(8): Show 
c.580+23636_580+23639delAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76155942
chr5:76156008 T
T
 A
A
 1 a0003c0004t0139g0016
a0003c0004t0139g0016
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.580+23678T>A
c.580+23678T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76156008
chr5:76156167 T
T
 C
C
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.580+23837T>C
c.580+23837T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76156167
chr5:76156224 G
G
 T
T
 1 a0001c0001t0131g0181
a0001c0001t0131g0181
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.580+23894G>T
c.580+23894G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76156224
chr5:76156283 A
A
 T
T
 1 a0001c0001t0008g0130
a0001c0001t0008g0130
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.580+23953A>T
c.580+23953A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76156283
chr5:76156410 C
C
 T
T
 9 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
others(6): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0009g0186
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 9 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(6): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+24080C>T
c.580+24080C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76156410
chr5:76156419 G
G
 A
A
 3 a0001c0002t0014g0136
a0001c0002t0029g0141
a0001c0002t0099g0132
a0001c0002t0014g0136
a0001c0002t0029g0141
a0001c0002t0099g0132
 3 HG01168.hp2
HG01255.hp1
HG01261.hp2
HG01168.hp2
HG01255.hp1
HG01261.hp2
 intron_variant MODIFIER c.580+24089G>A
c.580+24089G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76156419
chr5:76156606 T
T
 A
A
 102 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(99): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 102 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(99): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+24276T>A
c.580+24276T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76156606
chr5:76156612 A
A
 G
G
 105 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(102): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 105 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(102): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+24282A>G
c.580+24282A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76156612
chr5:76156674 G
G
 A
A
 3 a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 3 HG00733.hp1
HG02572.hp2
NA21309.hp2
HG00733.hp1
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.580+24344G>A
c.580+24344G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76156674
chr5:76156818 CAAAAG
CAAAAG
 C
C
 3 a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.580+24492_580+2449
others(9): Show 
c.580+24492_580+24496delAGAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76156818
chr5:76156978 C
C
 T
T
 1 a0003c0005t0030g0118
a0003c0005t0030g0118
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.580+24648C>T
c.580+24648C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76156978
chr5:76157240 G
G
 C
C
 4 a0001c0001t0040g0070
a0001c0001t0042g0072
a0002c0003t0044g0074
others(1): Show 
a0001c0001t0040g0070
a0001c0001t0042g0072
a0002c0003t0044g0074
a0003c0004t0057g0071
 4 HG01884.hp1
HG02630.hp1
HG03195.hp1
others(1): Show 
HG01884.hp1
HG02630.hp1
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.580+24910G>C
c.580+24910G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76157240
chr5:76157455 A
A
 C
C
 4 a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0150g0191
others(1): Show 
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0150g0191
a0003c0005t0156g0193
 4 HG00280.hp1
HG01109.hp2
HG01168.hp1
others(1): Show 
HG00280.hp1
HG01109.hp2
HG01168.hp1
HG01515.hp2
 intron_variant MODIFIER c.580+25125A>C
c.580+25125A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76157455
chr5:76157508 G
G
 A
A
 2 a0001c0002t0036g0014
a0005c0011t0143g0015
a0001c0002t0036g0014
a0005c0011t0143g0015
 2 HG02280.hp2
HG02717.hp2
HG02280.hp2
HG02717.hp2
 intron_variant MODIFIER c.580+25178G>A
c.580+25178G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76157508
chr5:76157561 A
A
 G
G
 3 a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 3 HG00733.hp1
HG02572.hp2
NA21309.hp2
HG00733.hp1
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.580+25231A>G
c.580+25231A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76157561
chr5:76157634 A
A
 AATAATAG
others(1): Show 
AATAATAGC
 102 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(99): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 102 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(99): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+25305_580+2530
others(12): Show 
c.580+25305_580+25306insTAATAGCA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76157634
chr5:76157695 A
A
 G
G
 102 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(99): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 102 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(99): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+25365A>G
c.580+25365A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76157695
chr5:76157755 A
A
 T
T
 1 a0001c0002t0151g0151
a0001c0002t0151g0151
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.580+25425A>T
c.580+25425A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76157755
chr5:76157763 A
A
 G
G
 1 a0001c0009t0076g0213
a0001c0009t0076g0213
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.580+25433A>G
c.580+25433A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76157763
chr5:76157798 A
A
 G
G
 102 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(99): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 102 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(99): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+25468A>G
c.580+25468A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76157798
chr5:76158061 A
A
 G
G
 1 a0001c0002t0107g0207
a0001c0002t0107g0207
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.580+25731A>G
c.580+25731A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76158061
chr5:76158157 C
C
 T
T
 1 a0001c0001t0088g0123
a0001c0001t0088g0123
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.580+25827C>T
c.580+25827C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76158157
chr5:76158198 A
A
 T
T
 194 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(191): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 194 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(191): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+25868A>T
c.580+25868A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76158198
chr5:76158273 G
G
 A
A
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.580+25943G>A
c.580+25943G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76158273
chr5:76158319 A
A
 G
G
 3 a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.580+25989A>G
c.580+25989A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76158319
chr5:76158382 AGAAAGC
AGAAAGC
 A
A
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+26053_580+2605
others(10): Show 
c.580+26053_580+26058delGAAAGC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76158382
chr5:76158439 T
T
 C
C
 185 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(182): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 185 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(182): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+26109T>C
c.580+26109T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76158439
chr5:76158634 A
A
 G
G
 1 a0001c0001t0004g0080
a0001c0001t0004g0080
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.580+26304A>G
c.580+26304A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76158634
chr5:76158664 T
T
 G
G
 1 a0003c0004t0039g0062
a0003c0004t0039g0062
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.580+26334T>G
c.580+26334T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76158664
chr5:76158722 A
A
 G
G
 102 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(99): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 102 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(99): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+26392A>G
c.580+26392A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76158722
chr5:76158911 G
G
 A
A
 102 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(99): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 102 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(99): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+26581G>A
c.580+26581G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76158911
chr5:76158925 C
C
 T
T
 9 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(6): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0025g0232
a0001c0002t0102g0234
a0001c0002t0109g0209
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 9 HG01496.hp1
HG01891.hp2
HG02809.hp1
others(6): Show 
HG01496.hp1
HG01891.hp2
HG02809.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+26595C>T
c.580+26595C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76158925
chr5:76158926 G
G
 A
A
 14 a0001c0001t0011g0040
a0001c0001t0047g0046
a0001c0001t0048g0047
others(11): Show 
a0001c0001t0011g0040
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0121g0097
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0135
a0001c0002t0029g0141
a0001c0002t0099g0132
a0001c0013t0014g0119
a0003c0004t0045g0048
 14 HG00735.hp2
HG01168.hp2
HG01255.hp1
others(11): Show 
HG00735.hp2
HG01168.hp2
HG01255.hp1
HG01261.hp2
HG02145.hp1
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp2
NA18998.hp2
NA19083.hp1
NA19240.hp1
 intron_variant MODIFIER c.580+26596G>A
c.580+26596G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76158926
chr5:76159035 A
A
 G
G
 102 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(99): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 102 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(99): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+26705A>G
c.580+26705A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159035
chr5:76159105 C
C
 A
A
 3 a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0133g0157
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0133g0157
 3 HG04199.hp2
HG04204.hp1
NA18998.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
 intron_variant MODIFIER c.580+26775C>A
c.580+26775C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159105
chr5:76159278 G
G
 A
A
 2 a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0096
a0001c0001t0003g0098
 2 NA18990.hp2
NA19007.hp2
NA18990.hp2
NA19007.hp2
 intron_variant MODIFIER c.580+26948G>A
c.580+26948G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159278
chr5:76159368 A
A
 G
G
 3 a0001c0001t0032g0004
a0001c0002t0112g0116
a0003c0005t0155g0149
a0001c0001t0032g0004
a0001c0002t0112g0116
a0003c0005t0155g0149
 3 HG00423.hp2
NA18975.hp2
NA19056.hp2
HG00423.hp2
NA18975.hp2
NA19056.hp2
 intron_variant MODIFIER c.580+27038A>G
c.580+27038A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159368
chr5:76159370 A
A
 G
G
 3 a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.580+27040A>G
c.580+27040A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159370
chr5:76159426 C
C
 T
T
 14 a0001c0001t0011g0040
a0001c0001t0047g0046
a0001c0001t0048g0047
others(11): Show 
a0001c0001t0011g0040
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0121g0097
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0135
a0001c0002t0029g0141
a0001c0002t0099g0132
a0001c0013t0014g0119
a0003c0004t0045g0048
 14 HG00735.hp2
HG01168.hp2
HG01255.hp1
others(11): Show 
HG00735.hp2
HG01168.hp2
HG01255.hp1
HG01261.hp2
HG02145.hp1
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp2
NA18998.hp2
NA19083.hp1
NA19240.hp1
 intron_variant MODIFIER c.580+27096C>T
c.580+27096C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159426
chr5:76159484 A
A
 G
G
 102 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(99): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 102 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(99): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+27154A>G
c.580+27154A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159484
chr5:76159597 G
G
 A
A
 1 a0001c0001t0131g0181
a0001c0001t0131g0181
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.580+27267G>A
c.580+27267G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159597
chr5:76159650 G
G
 A
A
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.580+27320G>A
c.580+27320G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159650
chr5:76159723 A
A
 G
G
 5 a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0086g0088
others(2): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0086g0088
a0002c0003t0087g0021
a0003c0004t0069g0022
 5 HG01891.hp1
HG02109.hp1
HG02717.hp1
others(2): Show 
HG01891.hp1
HG02109.hp1
HG02717.hp1
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.580+27393A>G
c.580+27393A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159723
chr5:76159825 A
A
 G
G
 193 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(190): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 193 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(190): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+27495A>G
c.580+27495A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159825
chr5:76159839 C
C
 A
A
 1 a0002c0008t0002g0221
a0002c0008t0002g0221
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.580+27509C>A
c.580+27509C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159839
chr5:76159890 A
A
 T
T
 1 a0001c0001t0009g0190
a0001c0001t0009g0190
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.580+27560A>T
c.580+27560A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159890
chr5:76159921 T
T
 C
C
 2 a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0113g0140
a0003c0005t0115g0139
 2 HG00642.hp1
HG01074.hp1
HG00642.hp1
HG01074.hp1
 intron_variant MODIFIER c.580+27591T>C
c.580+27591T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159921
chr5:76159929 C
C
 T
T
 5 a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
others(2): Show 
a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
 5 HG02486.hp1
HG03098.hp1
HG03139.hp1
others(2): Show 
HG02486.hp1
HG03098.hp1
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.580+27599C>T
c.580+27599C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76159929
chr5:76160010 TAATA
TAATA
 T
T
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+27689_580+2769
others(8): Show 
c.580+27689_580+27692delAATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76160010
chr5:76160114 G
G
 A
A
 193 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(190): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 193 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(190): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+27784G>A
c.580+27784G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76160114
chr5:76160115 G
G
 T
T
 2 a0001c0001t0024g0201
a0001c0001t0081g0202
a0001c0001t0024g0201
a0001c0001t0081g0202
 2 HG01981.hp2
HG02280.hp1
HG01981.hp2
HG02280.hp1
 intron_variant MODIFIER c.580+27785G>T
c.580+27785G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76160115
chr5:76160128 T
T
 C
C
 93 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(90): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 93 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(90): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+27798T>C
c.580+27798T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76160128
chr5:76160195 A
A
 G
G
 93 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(90): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 93 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(90): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+27865A>G
c.580+27865A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76160195
chr5:76160586 C
C
 T
T
 9 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
others(6): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0009g0186
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 9 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(6): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+28256C>T
c.580+28256C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76160586
chr5:76160587 G
G
 A
A
 3 a0001c0001t0040g0070
a0001c0001t0042g0072
a0003c0004t0057g0071
a0001c0001t0040g0070
a0001c0001t0042g0072
a0003c0004t0057g0071
 3 HG01884.hp1
HG02630.hp1
HG03195.hp1
HG01884.hp1
HG02630.hp1
HG03195.hp1
 intron_variant MODIFIER c.580+28257G>A
c.580+28257G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76160587
chr5:76160647 G
G
 C
C
 2 a0001c0001t0121g0097
a0001c0013t0014g0119
a0001c0001t0121g0097
a0001c0013t0014g0119
 2 NA18998.hp2
NA19083.hp1
NA18998.hp2
NA19083.hp1
 intron_variant MODIFIER c.580+28317G>C
c.580+28317G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76160647
chr5:76160703 C
C
 A
A
 1 a0002c0008t0002g0216
a0002c0008t0002g0216
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.580+28373C>A
c.580+28373C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76160703
chr5:76160884 T
T
 G
G
 1 a0002c0006t0095g0091
a0002c0006t0095g0091
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.580+28554T>G
c.580+28554T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76160884
chr5:76160964 A
A
 ACT
ACT
 208 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(205): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 208 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(205): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+28635_580+2863
others(6): Show 
c.580+28635_580+28636dupCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76160964
chr5:76160988 A
A
 C
C
 8 a0001c0001t0011g0040
a0001c0001t0047g0046
a0001c0001t0048g0047
others(5): Show 
a0001c0001t0011g0040
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0002t0013g0082
a0003c0004t0045g0048
 8 HG00735.hp2
HG02145.hp1
HG02723.hp2
others(5): Show 
HG00735.hp2
HG02145.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp2
NA19240.hp1
 intron_variant MODIFIER c.580+28658A>C
c.580+28658A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76160988
chr5:76161014 T
T
 TCCATTTT
others(140): Show 
TCCATTTTTTAGGTACATACCCAAGAATAATGAAAACAAAAGTCATGGAA
AAACAAAAACATTTCTAATAACACTGTTCATAGTAGCTAAAAGGTGAAAG
CAACCCAAATGACCATAAATTAATGAATAGACAAATTTTGAATATGTA
 1 a0001c0002t0114g0125
a0001c0002t0114g0125
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.580+28686_580+2883
others(151): Show 
c.580+28686_580+28832dupCATTTTTTAGGTACATACCCAAGAAT
AATGAAAACAAAAGTCATGGAAAAACAAAAACATTTCTAATAACACTGTT
CATAGTAGCTAAAAGGTGAAAGCAACCCAAATGACCATAAATTAATGAAT
AGACAAATTTTGAATATGTAC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76161014
chr5:76161137 T
T
 C
C
 8 a0001c0001t0004g0229
a0001c0001t0046g0050
a0001c0001t0088g0123
others(5): Show 
a0001c0001t0004g0229
a0001c0001t0046g0050
a0001c0001t0088g0123
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0119g0187
 8 HG02258.hp1
HG02451.hp2
HG02486.hp1
others(5): Show 
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.580+28807T>C
c.580+28807T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76161137
chr5:76161141 T
T
 C
C
 3 a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0081g0202
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0081g0202
 3 HG01255.hp2
HG01981.hp2
HG02280.hp1
HG01255.hp2
HG01981.hp2
HG02280.hp1
 intron_variant MODIFIER c.580+28811T>C
c.580+28811T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76161141
chr5:76161333 C
C
 A
A
 1 a0001c0002t0035g0178
a0001c0002t0035g0178
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.580+29003C>A
c.580+29003C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76161333
chr5:76161364 C
C
 T
T
 1 a0003c0004t0012g0222
a0003c0004t0012g0222
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.580+29034C>T
c.580+29034C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76161364
chr5:76161387 T
T
 C
C
 194 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(191): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 194 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(191): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+29057T>C
c.580+29057T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76161387
chr5:76161445 G
G
 T
T
 34 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(31): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0015g0138
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0091g0107
 34 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(31): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02602.hp1
HG02630.hp1
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.580+29115G>T
c.580+29115G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76161445
chr5:76161446 G
G
 T
T
 2 a0001c0001t0141g0013
a0002c0006t0095g0091
a0001c0001t0141g0013
a0002c0006t0095g0091
 2 HG02055.hp2
HG02615.hp1
HG02055.hp2
HG02615.hp1
 intron_variant MODIFIER c.580+29116G>T
c.580+29116G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76161446
chr5:76161631 A
A
 T
T
 1 a0001c0001t0138g0150
a0001c0001t0138g0150
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.580+29301A>T
c.580+29301A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76161631
chr5:76162078 G
G
 GA
GA
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.580+29758dupA
c.580+29758dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76162078
chr5:76162213 T
T
 C
C
 1 a0003c0004t0120g0005
a0003c0004t0120g0005
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.580+29883T>C
c.580+29883T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76162213
chr5:76162246 C
C
 G
G
 5 a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
others(2): Show 
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0003c0004t0009g0017
 5 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(2): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
NA20129.hp2
 intron_variant MODIFIER c.580+29916C>G
c.580+29916C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76162246
chr5:76162267 G
G
 C
C
 179 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(176): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 179 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(176): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+29937G>C
c.580+29937G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76162267
chr5:76162472 C
C
 T
T
 3 a0001c0002t0035g0178
a0001c0002t0102g0234
a0002c0006t0147g0195
a0001c0002t0035g0178
a0001c0002t0102g0234
a0002c0006t0147g0195
 3 HG01123.hp2
HG01496.hp1
NA20905.hp1
HG01123.hp2
HG01496.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+30142C>T
c.580+30142C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76162472
chr5:76162576 C
C
 T
T
 194 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(191): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 194 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(191): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+30246C>T
c.580+30246C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76162576
chr5:76162777 T
T
 C
C
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.580+30447T>C
c.580+30447T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76162777
chr5:76162794 T
T
 C
C
 2 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0001t0004g0080
a0001c0002t0009g0186
 2 HG02965.hp1
NA20300.hp1
HG02965.hp1
NA20300.hp1
 intron_variant MODIFIER c.580+30464T>C
c.580+30464T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76162794
chr5:76162973 A
A
 G
G
 1 a0001c0001t0137g0159
a0001c0001t0137g0159
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.580+30643A>G
c.580+30643A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76162973
chr5:76163018 G
G
 A
A
 1 a0002c0006t0095g0091
a0002c0006t0095g0091
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.580+30688G>A
c.580+30688G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76163018
chr5:76163060 C
C
 T
T
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+30730C>T
c.580+30730C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76163060
chr5:76163107 C
C
 T
T
 1 a0002c0003t0129g0188
a0002c0003t0129g0188
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.580+30777C>T
c.580+30777C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76163107
chr5:76163115 G
G
 A
A
 9 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
others(6): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0009g0186
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 9 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(6): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+30785G>A
c.580+30785G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76163115
chr5:76163123 G
G
 T
T
 1 a0001c0001t0003g0171
a0001c0001t0003g0171
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.580+30793G>T
c.580+30793G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76163123
chr5:76163181 CA
CA
 C
C
 3 a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0132g0009
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0132g0009
 3 HG01884.hp2
HG02258.hp2
HG03041.hp1
HG01884.hp2
HG02258.hp2
HG03041.hp1
 intron_variant MODIFIER c.580+30852delA
c.580+30852delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76163181
chr5:76163235 C
C
 A
A
 9 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
others(6): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0009g0186
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 9 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(6): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.580+30905C>A
c.580+30905C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76163235
chr5:76163445 T
T
 C
C
 1 a0007c0014t0005g0180
a0007c0014t0005g0180
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.580+31115T>C
c.580+31115T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76163445
chr5:76163679 C
C
 A
A
 2 a0001c0002t0148g0158
a0002c0006t0034g0168
a0001c0002t0148g0158
a0002c0006t0034g0168
 2 HG00558.hp1
NA18954.hp2
HG00558.hp1
NA18954.hp2
 intron_variant MODIFIER c.581-31240C>A
c.581-31240C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76163679
chr5:76164131 G
G
 A
A
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-30788G>A
c.581-30788G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76164131
chr5:76164335 A
A
 C
C
 3 a0001c0001t0011g0040
a0001c0001t0050g0041
a0001c0002t0013g0082
a0001c0001t0011g0040
a0001c0001t0050g0041
a0001c0002t0013g0082
 3 HG02723.hp2
HG02818.hp2
HG03130.hp2
HG02723.hp2
HG02818.hp2
HG03130.hp2
 intron_variant MODIFIER c.581-30584A>C
c.581-30584A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76164335
chr5:76164451 T
T
 C
C
 1 a0001c0001t0088g0123
a0001c0001t0088g0123
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.581-30468T>C
c.581-30468T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76164451
chr5:76164721 A
A
 AGT
AGT
 21 a0001c0001t0011g0040
a0001c0001t0024g0203
a0001c0001t0047g0046
others(18): Show 
a0001c0001t0011g0040
a0001c0001t0024g0203
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0121g0097
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0002t0006g0156
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0135
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0099g0132
a0001c0002t0102g0234
a0001c0002t0109g0209
a0001c0002t0144g0155
a0001c0013t0014g0119
a0002c0006t0147g0195
a0003c0004t0045g0048
 21 HG00735.hp2
HG01168.hp2
HG01255.hp1
others(18): Show 
HG00735.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01496.hp1
HG01891.hp2
HG02145.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp2
HG04184.hp2
NA18998.hp2
NA19083.hp1
NA19240.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-30169_581-3016
others(6): Show 
c.581-30169_581-30168dupGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76164721
chr5:76164721 A
A
 AGTGT
AGTGT
 13 a0001c0001t0046g0050
a0001c0001t0088g0123
a0001c0001t0131g0181
others(10): Show 
a0001c0001t0046g0050
a0001c0001t0088g0123
a0001c0001t0131g0181
a0001c0001t0141g0013
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0119g0187
a0002c0006t0095g0091
a0003c0004t0009g0017
a0004c0010t0027g0110
a0005c0011t0143g0015
 13 HG01106.hp1
HG02055.hp2
HG02258.hp1
others(10): Show 
HG01106.hp1
HG02055.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp2
HG02615.hp1
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02976.hp1
HG03139.hp2
HG03471.hp1
NA20129.hp2
 intron_variant MODIFIER c.581-30171_581-3016
others(8): Show 
c.581-30171_581-30168dupGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76164721
chr5:76164721 A
A
 AGTGTGT
AGTGTGT
 9 a0001c0001t0008g0104
a0001c0001t0022g0214
a0001c0001t0077g0212
others(6): Show 
a0001c0001t0008g0104
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0089g0081
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
a0004c0010t0027g0111
 9 HG00741.hp2
HG02083.hp1
HG02523.hp1
others(6): Show 
HG00741.hp2
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19030.hp2
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA19088.hp2
 intron_variant MODIFIER c.581-30173_581-3016
others(10): Show 
c.581-30173_581-30168dupGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76164721
chr5:76164721 A
A
 AGTGTGTG
others(1): Show 
AGTGTGTGT
 3 a0001c0001t0083g0204
a0002c0003t0026g0230
a0002c0003t0129g0188
a0001c0001t0083g0204
a0002c0003t0026g0230
a0002c0003t0129g0188
 3 HG01243.hp2
HG03486.hp2
NA18522.hp1
HG01243.hp2
HG03486.hp2
NA18522.hp1
 intron_variant MODIFIER c.581-30175_581-3016
others(12): Show 
c.581-30175_581-30168dupGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76164721
chr5:76164721 A
A
 AGTGTGTG
others(3): Show 
AGTGTGTGTGT
 46 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(43): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0130
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0090g0106
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0015g0138
a0001c0002t0101g0144
a0001c0002t0152g0199
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0134g0182
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0003c0004t0039g0062
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
 46 HG00280.hp2
HG00558.hp2
HG00735.hp1
others(43): Show 
HG00280.hp2
HG00558.hp2
HG00735.hp1
HG00738.hp2
HG01109.hp1
HG01258.hp1
HG01258.hp2
HG01433.hp2
HG01884.hp1
HG01928.hp1
HG01928.hp2
HG01981.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02602.hp1
HG02630.hp2
HG02735.hp1
HG02735.hp2
HG02886.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03704.hp1
HG04184.hp1
HG04199.hp1
HG04228.hp2
NA18906.hp2
NA18955.hp2
NA18968.hp1
NA18975.hp1
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp1
NA19079.hp1
NA19084.hp2
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.581-30177_581-3016
others(14): Show 
c.581-30177_581-30168dupGTGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76164721
chr5:76164721 A
A
 AGTGTGTG
others(5): Show 
AGTGTGTGTGTGT
 10 a0001c0001t0001g0057
a0001c0001t0003g0185
a0001c0001t0004g0229
others(7): Show 
a0001c0001t0001g0057
a0001c0001t0003g0185
a0001c0001t0004g0229
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0002t0009g0186
a0002c0003t0059g0043
a0003c0004t0038g0066
 10 HG01943.hp2
HG02015.hp2
HG02630.hp1
others(7): Show 
HG01943.hp2
HG02015.hp2
HG02630.hp1
HG03139.hp1
NA18951.hp2
NA18981.hp1
NA19001.hp2
NA19068.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.581-30179_581-3016
others(16): Show 
c.581-30179_581-30168dupGTGTGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76164721
chr5:76164721 A
A
 AGTGTGTG
others(7): Show 
AGTGTGTGTGTGTGT
 27 a0001c0001t0003g0167
a0001c0001t0007g0122
a0001c0001t0008g0127
others(24): Show 
a0001c0001t0003g0167
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0132g0009
a0001c0001t0136g0095
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0108g0120
a0001c0009t0031g0184
a0002c0003t0049g0025
a0002c0003t0072g0143
a0002c0003t0124g0183
a0003c0004t0005g0161
a0003c0004t0026g0147
a0003c0005t0155g0149
a0007c0014t0005g0180
 27 HG00423.hp1
HG01074.hp2
HG01261.hp1
others(24): Show 
HG00423.hp1
HG01074.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01884.hp2
HG02056.hp1
HG02083.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02647.hp2
HG02809.hp2
HG02818.hp1
HG03540.hp1
HG03834.hp1
HG03834.hp2
NA18945.hp1
NA18960.hp1
NA18975.hp2
NA18981.hp2
NA19001.hp1
NA19068.hp2
NA19079.hp2
NA19081.hp1
NA20905.hp2
 intron_variant MODIFIER c.581-30181_581-3016
others(18): Show 
c.581-30181_581-30168dupGTGTGTGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76164721
chr5:76164721 A
A
 AGTGTGTG
others(9): Show 
AGTGTGTGTGTGTGTGT
 33 a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0004g0080
others(30): Show 
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0033g0003
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0093g0205
a0001c0002t0098g0113
a0001c0002t0111g0133
a0001c0002t0149g0019
a0001c0002t0153g0200
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0061g0049
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0139g0016
a0003c0005t0113g0140
a0003c0005t0115g0139
 33 HG00642.hp1
HG00733.hp1
HG00741.hp1
others(30): Show 
HG00642.hp1
HG00733.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02451.hp1
HG02559.hp1
HG02647.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03209.hp1
HG03540.hp2
HG03704.hp2
HG04204.hp2
NA18522.hp2
NA18968.hp2
NA19005.hp1
NA19043.hp1
NA19060.hp2
NA19072.hp2
NA20300.hp2
 intron_variant MODIFIER c.581-30183_581-3016
others(20): Show 
c.581-30183_581-30168dupGTGTGTGTGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76164721
chr5:76164721 A
A
 AGTGTGTG
others(11): Show 
AGTGTGTGTGTGTGTGTGT
 23 a0001c0001t0004g0219
a0001c0001t0005g0100
a0001c0001t0032g0004
others(20): Show 
a0001c0001t0004g0219
a0001c0001t0005g0100
a0001c0001t0032g0004
a0001c0001t0123g0002
a0001c0001t0135g0198
a0001c0002t0014g0134
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0148g0158
a0001c0007t0007g0078
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0094g0142
a0003c0004t0016g0101
a0003c0005t0030g0118
a0003c0005t0034g0173
 23 HG00423.hp2
HG00558.hp1
HG00642.hp2
others(20): Show 
HG00423.hp2
HG00558.hp1
HG00642.hp2
HG02015.hp1
HG02976.hp2
HG03225.hp1
HG03225.hp2
HG04228.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18992.hp2
NA19030.hp1
NA19063.hp1
NA19063.hp2
NA19072.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
 intron_variant MODIFIER c.581-30185_581-3016
others(22): Show 
c.581-30185_581-30168dupGTGTGTGTGTGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76164721
chr5:76164721 A
A
 AGTGTGTG
others(13): Show 
AGTGTGTGTGTGTGTGTGTGT
 12 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0011g0065
others(9): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0032g0160
a0001c0001t0126g0172
a0001c0002t0064g0038
a0001c0002t0112g0116
a0001c0002t0142g0001
a0002c0006t0063g0053
a0003c0004t0140g0163
a0003c0005t0019g0060
 12 HG01496.hp2
HG01943.hp1
HG02056.hp2
others(9): Show 
HG01496.hp2
HG01943.hp1
HG02056.hp2
HG02080.hp2
HG02523.hp2
HG02615.hp2
HG02738.hp1
NA18954.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA19056.hp2
 intron_variant MODIFIER c.581-30187_581-3016
others(24): Show 
c.581-30187_581-30168dupGTGTGTGTGTGTGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76164721
chr5:76164999 GAAA
GAAA
 G
G
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-29914_581-2991
others(7): Show 
c.581-29914_581-29912delAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76164999
chr5:76165014 AC
AC
 A
A
 67 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(64): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0065
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0132g0009
a0001c0002t0006g0174
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0007c0014t0005g0180
 67 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(64): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG03041.hp1
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA19005.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-29904delC
c.581-29904delC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76165014
chr5:76165143 T
T
 C
C
 9 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
others(6): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0009g0186
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 9 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(6): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-29776T>C
c.581-29776T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76165143
chr5:76165250 A
A
 T
T
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-29669A>T
c.581-29669A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76165250
chr5:76165278 T
T
 C
C
 9 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
others(6): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0009g0186
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 9 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(6): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-29641T>C
c.581-29641T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76165278
chr5:76165618 C
C
 CT
CT
 67 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(64): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0065
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0132g0009
a0001c0002t0006g0174
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0007c0014t0005g0180
 67 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(64): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG03041.hp1
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA19005.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-29292dupT
c.581-29292dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76165618
chr5:76165672 G
G
 A
A
 1 a0003c0005t0116g0126
a0003c0005t0116g0126
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.581-29247G>A
c.581-29247G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76165672
chr5:76165758 G
G
 T
T
 93 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(90): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 93 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(90): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-29161G>T
c.581-29161G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76165758
chr5:76165862 A
A
 G
G
 9 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
others(6): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0009g0186
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 9 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(6): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03209.hp2
HG03486.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-29057A>G
c.581-29057A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76165862
chr5:76165921 A
A
 G
G
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-28998A>G
c.581-28998A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76165921
chr5:76165951 G
G
 C
C
 97 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(94): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 97 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(94): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-28968G>C
c.581-28968G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76165951
chr5:76165952 A
A
 C
C
 97 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(94): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 97 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(94): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-28967A>C
c.581-28967A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76165952
chr5:76166048 G
G
 A
A
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-28871G>A
c.581-28871G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76166048
chr5:76166142 G
G
 T
T
 4 a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
others(1): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0002c0003t0087g0021
a0003c0004t0069g0022
 4 HG01891.hp1
HG02109.hp1
HG03471.hp2
others(1): Show 
HG01891.hp1
HG02109.hp1
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.581-28777G>T
c.581-28777G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76166142
chr5:76166145 C
C
 T
T
 2 a0001c0002t0036g0014
a0005c0011t0143g0015
a0001c0002t0036g0014
a0005c0011t0143g0015
 2 HG02280.hp2
HG02717.hp2
HG02280.hp2
HG02717.hp2
 intron_variant MODIFIER c.581-28774C>T
c.581-28774C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76166145
chr5:76166254 C
C
 T
T
 1 a0001c0002t0108g0120
a0001c0002t0108g0120
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.581-28665C>T
c.581-28665C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76166254
chr5:76166263 GT
GT
 G
G
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-28655delT
c.581-28655delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76166263
chr5:76166269 C
C
 T
T
 200 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(197): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 200 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(197): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-28650C>T
c.581-28650C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76166269
chr5:76166277 C
C
 G
G
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-28642C>G
c.581-28642C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76166277
chr5:76166403 T
T
 A
A
 1 a0001c0001t0131g0181
a0001c0001t0131g0181
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.581-28516T>A
c.581-28516T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76166403
chr5:76166542 G
G
 A
A
 95 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(92): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0131g0181
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0005c0011t0143g0015
 95 HG00423.hp1
HG00642.hp2
HG00733.hp1
others(92): Show 
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG01243.hp1
HG01258.hp1
HG01361.hp2
HG01433.hp1
HG01884.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18951.hp2
NA18955.hp2
NA18960.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.581-28377G>A
c.581-28377G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76166542
chr5:76166542 G
G
 GCTACCTT
others(71): Show 
GCTACCTTTGTAAATGTCATCATTTGGTATTATGGTGAGCAGTCCCACAA
ATATCTAGGAGCTAGGAATTAAAATAAAA
 2 a0001c0002t0020g0073
a0002c0006t0062g0068
a0001c0002t0020g0073
a0002c0006t0062g0068
 2 NA18992.hp2
NA19063.hp1
NA18992.hp2
NA19063.hp1
 intron_variant MODIFIER c.581-28366_581-2836
others(82): Show 
c.581-28366_581-28365insAATGTCATCATTTGGTATTATGGTGA
GCAGTCCCACAAATATCTAGGAGCTAGGAATTAAAATAAAACTACCTTTG
TA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76166542
chr5:76166542 G
G
 GCTACCTT
others(71): Show 
GCTACCTTTGTAGATGTCATCATTTGGTATTATGGTGAGCAGTCCCACAA
ATATCTAGGAGCTAGGAATTAAAATAAAA
 95 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(92): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 95 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(92): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18998.hp2
NA19005.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-28312_581-2831
others(82): Show 
c.581-28312_581-28311insAATTAAAATAAAACTACCTTTGTAGA
TGTCATCATTTGGTATTATGGTGAGCAGTCCCACAAATATCTAGGAGCTA
GG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76166542
chr5:76166693 G
G
 T
T
 104 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(101): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 104 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(101): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-28226G>T
c.581-28226G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76166693
chr5:76166782 A
A
 G
G
 104 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(101): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 104 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(101): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-28137A>G
c.581-28137A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76166782
chr5:76166797 T
T
 C
C
 116 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(113): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 116 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(113): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-28122T>C
c.581-28122T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76166797
chr5:76166911 A
A
 G
G
 107 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(104): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 107 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(104): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-28008A>G
c.581-28008A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76166911
chr5:76166969 C
C
 T
T
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-27950C>T
c.581-27950C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76166969
chr5:76167092 C
C
 T
T
 1 a0001c0002t0006g0177
a0001c0002t0006g0177
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.581-27827C>T
c.581-27827C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76167092
chr5:76167116 C
C
 T
T
 6 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0083
others(3): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0083
a0001c0001t0012g0223
a0002c0008t0002g0218
a0002c0008t0007g0225
 6 HG00642.hp2
HG02451.hp1
HG02559.hp1
others(3): Show 
HG00642.hp2
HG02451.hp1
HG02559.hp1
HG02615.hp2
HG02647.hp1
HG02922.hp2
 intron_variant MODIFIER c.581-27803C>T
c.581-27803C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76167116
chr5:76167318 C
C
 T
T
 97 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(94): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 97 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(94): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-27601C>T
c.581-27601C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76167318
chr5:76167336 T
T
 C
C
 107 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(104): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 107 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(104): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-27583T>C
c.581-27583T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76167336
chr5:76167356 TG
TG
 T
T
 2 a0001c0001t0001g0059
a0001c0001t0053g0045
a0001c0001t0001g0059
a0001c0001t0053g0045
 2 HG02602.hp1
HG03704.hp1
HG02602.hp1
HG03704.hp1
 intron_variant MODIFIER c.581-27562delG
c.581-27562delG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76167356
chr5:76167517 T
T
 G
G
 107 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(104): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 107 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(104): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-27402T>G
c.581-27402T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76167517
chr5:76167651 T
T
 C
C
 1 a0001c0002t0097g0114
a0001c0002t0097g0114
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.581-27268T>C
c.581-27268T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76167651
chr5:76167665 G
G
 T
T
 2 a0001c0002t0006g0192
a0003c0005t0116g0126
a0001c0002t0006g0192
a0003c0005t0116g0126
 2 HG00738.hp1
HG02145.hp2
HG00738.hp1
HG02145.hp2
 intron_variant MODIFIER c.581-27254G>T
c.581-27254G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76167665
chr5:76167675 G
G
 T
T
 104 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(101): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0013t0014g0119
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 104 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(101): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp1
NA19011.hp2
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-27244G>T
c.581-27244G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76167675
chr5:76167890 C
C
 G
G
 3 a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.581-27029C>G
c.581-27029C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76167890
chr5:76168012 C
C
 T
T
 1 a0001c0002t0006g0192
a0001c0002t0006g0192
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.581-26907C>T
c.581-26907C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76168012
chr5:76168107 T
T
 C
C
 97 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(94): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0131g0181
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0005c0011t0143g0015
 97 HG00423.hp1
HG00642.hp2
HG00733.hp1
others(94): Show 
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG01243.hp1
HG01258.hp1
HG01361.hp2
HG01433.hp1
HG01884.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18951.hp2
NA18955.hp2
NA18960.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.581-26812T>C
c.581-26812T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76168107
chr5:76168183 A
A
 G
G
 1 a0001c0002t0089g0081
a0001c0002t0089g0081
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.581-26736A>G
c.581-26736A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76168183
chr5:76168352 G
G
 A
A
 3 a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.581-26567G>A
c.581-26567G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76168352
chr5:76168387 C
C
 T
T
 1 a0001c0002t0014g0134
a0001c0002t0014g0134
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.581-26532C>T
c.581-26532C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76168387
chr5:76168520 A
A
 G
G
 6 a0001c0001t0131g0181
a0001c0002t0100g0206
a0001c0002t0103g0148
others(3): Show 
a0001c0001t0131g0181
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0003c0004t0009g0017
 6 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(3): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03139.hp2
HG03471.hp1
NA20129.hp2
 intron_variant MODIFIER c.581-26399A>G
c.581-26399A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76168520
chr5:76168605 G
G
 A
A
 191 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(188): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 191 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(188): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-26314G>A
c.581-26314G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76168605
chr5:76168618 C
C
 T
T
 3 a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 3 HG00733.hp1
HG02572.hp2
NA21309.hp2
HG00733.hp1
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.581-26301C>T
c.581-26301C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76168618
chr5:76169036 C
C
 A
A
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-25883C>A
c.581-25883C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76169036
chr5:76169042 G
G
 C
C
 1 a0001c0001t0025g0231
a0001c0001t0025g0231
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.581-25877G>C
c.581-25877G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76169042
chr5:76169100 G
G
 A
A
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-25819G>A
c.581-25819G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76169100
chr5:76169440 G
G
 A
A
 1 a0001c0001t0025g0231
a0001c0001t0025g0231
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.581-25479G>A
c.581-25479G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76169440
chr5:76169451 G
G
 T
T
 5 a0001c0001t0131g0181
a0001c0002t0100g0206
a0001c0002t0103g0148
others(2): Show 
a0001c0001t0131g0181
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
 5 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(2): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03139.hp2
HG03471.hp1
 intron_variant MODIFIER c.581-25468G>T
c.581-25468G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76169451
chr5:76169511 A
A
 G
G
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-25408A>G
c.581-25408A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76169511
chr5:76169592 C
C
 T
T
 1 a0001c0001t0024g0203
a0001c0001t0024g0203
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.581-25327C>T
c.581-25327C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76169592
chr5:76169665 T
T
 G
G
 3 a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 3 HG00733.hp1
HG02572.hp2
NA21309.hp2
HG00733.hp1
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.581-25254T>G
c.581-25254T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76169665
chr5:76169682 G
G
 C
C
 14 a0001c0001t0002g0094
a0001c0001t0013g0085
a0001c0001t0022g0214
others(11): Show 
a0001c0001t0002g0094
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0102g0234
a0001c0009t0076g0213
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
 14 HG01496.hp1
HG02083.hp1
HG02523.hp1
others(11): Show 
HG01496.hp1
HG02083.hp1
HG02523.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03195.hp2
HG03209.hp2
HG03486.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-25237G>C
c.581-25237G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76169682
chr5:76169947 G
G
 A
A
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-24972G>A
c.581-24972G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76169947
chr5:76169980 T
T
 TAATA
TAATA
 8 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(5): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0121g0097
a0001c0009t0076g0213
a0001c0013t0014g0119
a0003c0004t0019g0145
a0003c0004t0058g0051
 8 HG02083.hp1
HG02523.hp1
NA18998.hp2
others(5): Show 
HG02083.hp1
HG02523.hp1
NA18998.hp2
NA19007.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-24921_581-2491
others(8): Show 
c.581-24921_581-24918dupATAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76169980
chr5:76169980 TAATA
TAATA
 T
T
 51 a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
others(48): Show 
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0004g0219
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0046g0050
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0088g0123
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0025g0232
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0149g0019
a0001c0007t0007g0078
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0139g0016
 51 HG00642.hp2
HG01243.hp1
HG01258.hp1
others(48): Show 
HG00642.hp2
HG01243.hp1
HG01258.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01928.hp2
HG01943.hp2
HG02055.hp1
HG02056.hp1
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03540.hp2
HG03704.hp2
HG04199.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18960.hp1
NA18981.hp2
NA18990.hp2
NA19001.hp1
NA19007.hp2
NA19030.hp1
NA19043.hp1
NA19072.hp1
NA19079.hp2
NA20905.hp1
 intron_variant MODIFIER c.581-24921_581-2491
others(8): Show 
c.581-24921_581-24918delATAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76169980
chr5:76170005 T
T
 C
C
 14 a0001c0001t0002g0094
a0001c0001t0013g0085
a0001c0001t0022g0214
others(11): Show 
a0001c0001t0002g0094
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0102g0234
a0001c0009t0076g0213
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
 14 HG01496.hp1
HG02083.hp1
HG02523.hp1
others(11): Show 
HG01496.hp1
HG02083.hp1
HG02523.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03195.hp2
HG03209.hp2
HG03486.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-24914T>C
c.581-24914T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170005
chr5:76170012 T
T
 C
C
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-24907T>C
c.581-24907T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170012
chr5:76170029 G
G
 A
A
 2 a0001c0002t0036g0014
a0005c0011t0143g0015
a0001c0002t0036g0014
a0005c0011t0143g0015
 2 HG02280.hp2
HG02717.hp2
HG02280.hp2
HG02717.hp2
 intron_variant MODIFIER c.581-24890G>A
c.581-24890G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170029
chr5:76170095 A
A
 G
G
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-24824A>G
c.581-24824A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170095
chr5:76170138 C
C
 T
T
 185 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(182): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 185 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(182): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-24781C>T
c.581-24781C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170138
chr5:76170152 T
T
 G
G
 6 a0001c0001t0131g0181
a0001c0002t0100g0206
a0001c0002t0103g0148
others(3): Show 
a0001c0001t0131g0181
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0003c0004t0009g0017
 6 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(3): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03139.hp2
HG03471.hp1
NA20129.hp2
 intron_variant MODIFIER c.581-24767T>G
c.581-24767T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170152
chr5:76170179 A
A
 T
T
 3 a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.581-24740A>T
c.581-24740A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170179
chr5:76170322 C
C
 T
T
 4 a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0150g0191
others(1): Show 
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0150g0191
a0003c0005t0156g0193
 4 HG00280.hp1
HG01109.hp2
HG01168.hp1
others(1): Show 
HG00280.hp1
HG01109.hp2
HG01168.hp1
HG01515.hp2
 intron_variant MODIFIER c.581-24597C>T
c.581-24597C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170322
chr5:76170366 C
C
 T
T
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-24553C>T
c.581-24553C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170366
chr5:76170372 C
C
 T
T
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-24547C>T
c.581-24547C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170372
chr5:76170471 T
T
 G
G
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-24448T>G
c.581-24448T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170471
chr5:76170505 T
T
 C
C
 1 a0002c0006t0095g0091
a0002c0006t0095g0091
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.581-24414T>C
c.581-24414T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170505
chr5:76170564 C
C
 A
A
 1 a0001c0002t0006g0156
a0001c0002t0006g0156
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.581-24355C>A
c.581-24355C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170564
chr5:76170572 G
G
 A
A
 2 a0001c0002t0036g0014
a0005c0011t0143g0015
a0001c0002t0036g0014
a0005c0011t0143g0015
 2 HG02280.hp2
HG02717.hp2
HG02280.hp2
HG02717.hp2
 intron_variant MODIFIER c.581-24347G>A
c.581-24347G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170572
chr5:76170636 T
T
 G
G
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-24283T>G
c.581-24283T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170636
chr5:76170754 TAAAAATT
others(2315): Show 
TAAAAATTAAAAAAACTGAGAAGGCTCGAAGGCGCCGCGGGCTGGGGTCG
GTGGCTTAGGGAGCCCGTCCGGCCATGGTGGCCGCGGGTGGTGGTTGGCG
CGGCTGCGCTGCGGCCCGGGGCAGTGCGGAGCCGGGACAGTCGCGGCGCT
GACGCCCGCGGGCCCCAGCTGCAGCTATGAAGCGGAGCCGCTGCCGCGAC
CGACCGCAGCCGCCGCCGCCCGACCGCCGGGAGGATGGAGTTCAGCGGGC
AGCGGAGCTGTCTCAGTCTTTGCCGCCGCGCCGGCGAGCGCCGCCCGGGA
GGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGGCAAGGAG
CAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCG
GCTGCCACCCCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATC
GTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGA
GGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTC
TTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCG
CCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGG
ATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAG
CGTCTCTGCCCGGCTGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGG
CAACCACCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCC
ATCTGGGAAGTGAGGAGCGTCTCCGCCGGGCAGCCACCCCGTCCAGGAGA
GAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA
GGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAG
GGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGG
GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT
GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCA
GCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCC
ACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCG
CCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCG
CCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCCGC
CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCTGTCCGG
GAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGAG
AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC
CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAG
CCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGC
CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC
CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGC
CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG
TGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAAC
AGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAA
AGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCT
GTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAG
AAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAAC
CCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTA
AGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGC
TCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTACCCAGGGACACAAA
CACTGCGGAAGGCCTCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTG
TTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTG
CCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAA
ATTAAAAAAAAATACAAAAAAAA
 T
T
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-24148_581-2182
others(4): Show 
c.581-24148_581-21827del
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76170754
chr5:76170824 G
G
 C
C
 1 a0001c0001t0117g0012
a0001c0001t0117g0012
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.581-24095G>C
c.581-24095G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170824
chr5:76170835 C
C
 A
A
 2 a0001c0002t0036g0014
a0005c0011t0143g0015
a0001c0002t0036g0014
a0005c0011t0143g0015
 2 HG02280.hp2
HG02717.hp2
HG02280.hp2
HG02717.hp2
 intron_variant MODIFIER c.581-24084C>A
c.581-24084C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170835
chr5:76170842 T
T
 C
C
 5 a0001c0001t0032g0160
a0001c0002t0028g0128
a0001c0002t0028g0129
others(2): Show 
a0001c0001t0032g0160
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0060g0052
a0001c0002t0064g0038
 5 NA18945.hp2
NA18966.hp1
NA18966.hp2
others(2): Show 
NA18945.hp2
NA18966.hp1
NA18966.hp2
NA19063.hp2
NA19084.hp1
 intron_variant MODIFIER c.581-24077T>C
c.581-24077T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170842
chr5:76170865 C
C
 G
G
 1 a0003c0005t0030g0118
a0003c0005t0030g0118
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.581-24054C>G
c.581-24054C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170865
chr5:76170895 C
C
 A
A
 2 a0001c0002t0036g0014
a0005c0011t0143g0015
a0001c0002t0036g0014
a0005c0011t0143g0015
 2 HG02280.hp2
HG02717.hp2
HG02280.hp2
HG02717.hp2
 intron_variant MODIFIER c.581-24024C>A
c.581-24024C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170895
chr5:76170906 C
C
 T
T
 1 a0002c0003t0085g0215
a0002c0003t0085g0215
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.581-24013C>T
c.581-24013C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170906
chr5:76170925 C
C
 G
G
 1 a0001c0001t0005g0099
a0001c0001t0005g0099
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.581-23994C>G
c.581-23994C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170925
chr5:76170928 C
C
 A
A
 198 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(195): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 198 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(195): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-23991C>A
c.581-23991C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170928
chr5:76170982 G
G
 A
A
 2 a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0037g0194
a0001c0002t0105g0117
 2 HG01109.hp2
HG01515.hp2
HG01109.hp2
HG01515.hp2
 intron_variant MODIFIER c.581-23937G>A
c.581-23937G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170982
chr5:76170989 T
T
 C
C
 3 a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 3 HG00733.hp1
HG02572.hp2
NA21309.hp2
HG00733.hp1
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.581-23930T>C
c.581-23930T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76170989
chr5:76171013 G
G
 A
A
 2 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0001t0004g0080
a0001c0002t0009g0186
 2 HG02965.hp1
NA20300.hp1
HG02965.hp1
NA20300.hp1
 intron_variant MODIFIER c.581-23906G>A
c.581-23906G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171013
chr5:76171038 C
C
 T
T
 2 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0001t0004g0080
a0001c0002t0009g0186
 2 HG02965.hp1
NA20300.hp1
HG02965.hp1
NA20300.hp1
 intron_variant MODIFIER c.581-23881C>T
c.581-23881C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171038
chr5:76171048 C
C
 T
T
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-23871C>T
c.581-23871C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171048
chr5:76171096 G
G
 A
A
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-23823G>A
c.581-23823G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171096
chr5:76171109 G
G
 T
T
 5 a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
others(2): Show 
a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
 5 HG02486.hp1
HG03098.hp1
HG03139.hp1
others(2): Show 
HG02486.hp1
HG03098.hp1
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.581-23810G>T
c.581-23810G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171109
chr5:76171255 G
G
 A
A
 5 a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
others(2): Show 
a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
 5 HG02486.hp1
HG03098.hp1
HG03139.hp1
others(2): Show 
HG02486.hp1
HG03098.hp1
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.581-23664G>A
c.581-23664G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171255
chr5:76171269 G
G
 A
A
 1 a0003c0004t0140g0163
a0003c0004t0140g0163
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.581-23650G>A
c.581-23650G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171269
chr5:76171414 C
C
 T
T
 2 a0001c0002t0025g0232
a0001c0002t0109g0209
a0001c0002t0025g0232
a0001c0002t0109g0209
 2 HG01891.hp2
HG02809.hp1
HG01891.hp2
HG02809.hp1
 intron_variant MODIFIER c.581-23505C>T
c.581-23505C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171414
chr5:76171425 G
G
 C
C
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-23494G>C
c.581-23494G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171425
chr5:76171428 C
C
 G
G
 1 a0007c0014t0005g0180
a0007c0014t0005g0180
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.581-23491C>G
c.581-23491C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171428
chr5:76171437 G
G
 A
A
 185 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(182): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 185 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(182): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-23482G>A
c.581-23482G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171437
chr5:76171454 C
C
 T
T
 1 a0001c0007t0007g0078
a0001c0007t0007g0078
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.581-23465C>T
c.581-23465C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171454
chr5:76171557 T
T
 C
C
 2 a0001c0001t0032g0160
a0001c0002t0064g0038
a0001c0001t0032g0160
a0001c0002t0064g0038
 2 NA18966.hp1
NA18966.hp2
NA18966.hp1
NA18966.hp2
 intron_variant MODIFIER c.581-23362T>C
c.581-23362T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171557
chr5:76171560 G
G
 A
A
 1 a0001c0007t0007g0078
a0001c0007t0007g0078
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.581-23359G>A
c.581-23359G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171560
chr5:76171572 G
G
 A
A
 3 a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 3 HG00733.hp1
HG02572.hp2
NA21309.hp2
HG00733.hp1
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.581-23347G>A
c.581-23347G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171572
chr5:76171598 A
A
 G
G
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-23321A>G
c.581-23321A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171598
chr5:76171608 T
T
 TG
TG
 32 a0001c0001t0001g0027
a0001c0001t0001g0059
a0001c0001t0002g0224
others(29): Show 
a0001c0001t0001g0027
a0001c0001t0001g0059
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0051g0035
a0001c0001t0077g0212
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0133g0157
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0156
a0001c0002t0009g0186
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0099g0132
a0001c0002t0108g0120
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0071g0228
a0002c0003t0124g0183
a0002c0003t0129g0188
a0003c0004t0019g0145
a0003c0004t0058g0051
 32 HG00642.hp2
HG01243.hp2
HG01261.hp2
others(29): Show 
HG00642.hp2
HG01243.hp2
HG01261.hp2
HG01433.hp1
HG01981.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp1
HG02145.hp1
HG02258.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02698.hp1
HG02738.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA19005.hp2
NA19007.hp1
NA19081.hp2
NA19088.hp1
NA20300.hp1
 intron_variant MODIFIER c.581-23301dupG
c.581-23301dupG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76171608
chr5:76171611 G
G
 C
C
 1 a0001c0001t0131g0181
a0001c0001t0131g0181
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.581-23308G>C
c.581-23308G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171611
chr5:76171632 CGGCCAGC
others(91): Show 
CGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCC
GGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT
 C
C
 1 a0001c0002t0015g0138
a0001c0002t0015g0138
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.581-23277_581-2318
others(102): Show 
c.581-23277_581-23180delCCCCATCCGGGAGGGAGGTGGGGGGT
CAGCCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGT
CAGCCCCCCGCCTGGCCAGCCG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76171632
chr5:76171660 TGGGGGGT
others(43): Show 
TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGT
G
 T
T
 8 a0001c0001t0003g0185
a0001c0001t0018g0067
a0001c0002t0100g0206
others(5): Show 
a0001c0001t0003g0185
a0001c0001t0018g0067
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0003c0004t0005g0161
a0003c0004t0009g0017
 8 HG01943.hp2
HG02056.hp1
HG02723.hp1
others(5): Show 
HG01943.hp2
HG02056.hp1
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
NA18960.hp1
NA20129.hp2
 intron_variant MODIFIER c.581-23242_581-2319
others(54): Show 
c.581-23242_581-23193delCGCCCGGCCAGCCGTGCCGTCCGGGA
GGGAGGTGGGGGGGTCAGCCCCCC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76171660
chr5:76171681 CGGCCAGC
others(42): Show 
CGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT
 C
C
 38 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(35): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0003g0171
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0077g0212
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0131g0181
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0152g0199
a0001c0002t0153g0200
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0006t0095g0091
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 38 HG00423.hp1
HG00735.hp1
HG01256.hp1
others(35): Show 
HG00423.hp1
HG00735.hp1
HG01256.hp1
HG01258.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02083.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG03139.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18975.hp1
NA18981.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.581-23189_581-2314
others(53): Show 
c.581-23189_581-23141delTGGCCAGCCGTGCCGTCCGGGAGGGA
GGTGGGGGGGTCAGCCCCCCGCC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76171681
chr5:76171682 G
G
 A
A
 1 a0001c0001t0033g0003
a0001c0001t0033g0003
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.581-23237G>A
c.581-23237G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171682
chr5:76171691 T
T
 C
C
 1 a0001c0002t0006g0156
a0001c0002t0006g0156
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.581-23228T>C
c.581-23228T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171691
chr5:76171692 G
G
 C
C
 1 a0001c0002t0006g0156
a0001c0002t0006g0156
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.581-23227G>C
c.581-23227G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171692
chr5:76171694 C
C
 A
A
 3 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
 3 HG00280.hp2
HG00738.hp2
HG01433.hp2
HG00280.hp2
HG00738.hp2
HG01433.hp2
 intron_variant MODIFIER c.581-23225C>A
c.581-23225C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171694
chr5:76171710 GGGGGGGT
others(41): Show 
GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGT
 G
G
 1 a0001c0009t0076g0213
a0001c0009t0076g0213
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.581-23202_581-2315
others(52): Show 
c.581-23202_581-23155delTCAGCCCCCCGCCTGGCCAGCCGTGC
CGTCCGGGAGGGAGGTGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76171710
chr5:76171711 GGGGGGTC
others(40): Show 
GGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGT
 G
G
 1 a0001c0002t0006g0156
a0001c0002t0006g0156
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.581-23202_581-2315
others(51): Show 
c.581-23202_581-23156delTCAGCCCCCCGCCTGGCCAGCCGTGC
CGTCCGGGAGGGAGGTGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76171711
chr5:76171715 G
G
 T
T
 2 a0004c0010t0027g0110
a0004c0010t0027g0111
a0004c0010t0027g0110
a0004c0010t0027g0111
 2 HG00741.hp2
HG01106.hp1
HG00741.hp2
HG01106.hp1
 intron_variant MODIFIER c.581-23204G>T
c.581-23204G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171715
chr5:76171727 G
G
 C
C
 1 a0001c0001t0121g0097
a0001c0001t0121g0097
 1 NA19083.hp1
NA19083.hp1
 intron_variant MODIFIER c.581-23192G>C
c.581-23192G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171727
chr5:76171730 T
T
 C
C
 5 a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
others(2): Show 
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0003c0004t0009g0017
 5 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(2): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
NA20129.hp2
 intron_variant MODIFIER c.581-23189T>C
c.581-23189T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171730
chr5:76171740 T
T
 C
C
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-23179T>C
c.581-23179T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171740
chr5:76171741 G
G
 C
C
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-23178G>C
c.581-23178G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171741
chr5:76171773 C
C
 T
T
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-23146C>T
c.581-23146C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171773
chr5:76171796 C
C
 T
T
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-23123C>T
c.581-23123C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171796
chr5:76171821 G
G
 A
A
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-23098G>A
c.581-23098G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171821
chr5:76171853 A
A
 T
T
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-23066A>T
c.581-23066A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171853
chr5:76171866 A
A
 G
G
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-23053A>G
c.581-23053A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171866
chr5:76171866 ACCCCGTC
others(43): Show 
ACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCC
G
 A
A
 2 a0001c0001t0083g0204
a0002c0003t0026g0230
a0001c0001t0083g0204
a0002c0003t0026g0230
 2 HG03486.hp2
NA18522.hp1
HG03486.hp2
NA18522.hp1
 intron_variant MODIFIER c.581-23035_581-2298
others(54): Show 
c.581-23035_581-22986delATGGGGGGGTCAGCCCCCCCACCCGG
CCAGCCGCCCCGTCCGGGAGGGAG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76171866
chr5:76171872 T
T
 C
C
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-23047T>C
c.581-23047T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171872
chr5:76171884 A
A
 G
G
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-23035A>G
c.581-23035A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171884
chr5:76171897 C
C
 G
G
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-23022C>G
c.581-23022C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171897
chr5:76171904 A
A
 G
G
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-23015A>G
c.581-23015A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171904
chr5:76171919 C
C
 G
G
 1 a0003c0004t0057g0071
a0003c0004t0057g0071
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.581-23000C>G
c.581-23000C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171919
chr5:76171925 G
G
 T
T
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.581-22994G>T
c.581-22994G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171925
chr5:76171936 A
A
 G
G
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-22983A>G
c.581-22983A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171936
chr5:76171945 A
A
 G
G
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-22974A>G
c.581-22974A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171945
chr5:76171956 T
T
 C
C
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-22963T>C
c.581-22963T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171956
chr5:76171963 C
C
 G
G
 1 a0001c0001t0009g0190
a0001c0001t0009g0190
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.581-22956C>G
c.581-22956C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171963
chr5:76171995 A
A
 G
G
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-22924A>G
c.581-22924A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76171995
chr5:76172000 T
T
 C
C
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-22919T>C
c.581-22919T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172000
chr5:76172013 C
C
 T
T
 5 a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
others(2): Show 
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0003c0004t0009g0017
 5 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(2): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
NA20129.hp2
 intron_variant MODIFIER c.581-22906C>T
c.581-22906C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172013
chr5:76172023 T
T
 C
C
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-22896T>C
c.581-22896T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172023
chr5:76172034 G
G
 A
A
 1 a0001c0001t0007g0122
a0001c0001t0007g0122
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.581-22885G>A
c.581-22885G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172034
chr5:76172040 C
C
 G
G
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-22879C>G
c.581-22879C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172040
chr5:76172048 A
A
 G
G
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-22871A>G
c.581-22871A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172048
chr5:76172048 AGCCGCCC
others(120): Show 
AGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCT
GTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCG
TCTGAGAGGTGAGGGGCGCCTCTGCCCG
 A
A
 3 a0001c0001t0001g0058
a0001c0001t0007g0122
a0003c0004t0009g0017
a0001c0001t0001g0058
a0001c0001t0007g0122
a0003c0004t0009g0017
 3 HG02300.hp2
HG02486.hp2
NA20129.hp2
HG02300.hp2
HG02486.hp2
NA20129.hp2
 intron_variant MODIFIER c.581-22822_581-2269
others(4): Show 
c.581-22822_581-22696del
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172048
chr5:76172051 C
C
 T
T
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-22868C>T
c.581-22868C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172051
chr5:76172080 T
T
 TGCCCGGC
others(41): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCC
 7 a0001c0001t0002g0094
a0001c0001t0022g0214
a0001c0001t0077g0212
others(4): Show 
a0001c0001t0002g0094
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 7 HG02083.hp1
HG02523.hp1
HG03195.hp2
others(4): Show 
HG02083.hp1
HG02523.hp1
HG03195.hp2
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-22823_581-2282
others(52): Show 
c.581-22823_581-22822insCGTCCGGGAGGGAGGTGGGGGGTCAG
CCCCCCGCCCGGCCAGCCGCCC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172080
chr5:76172097 T
T
 C
C
 185 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(182): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 185 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(182): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22822T>C
c.581-22822T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172097
chr5:76172099 T
T
 C
C
 125 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0096
others(122): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0127
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 125 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(122): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp2
NA18990.hp2
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22820T>C
c.581-22820T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172099
chr5:76172112 T
T
 TGGGGGGG
others(99): Show 
TGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGG
 1 a0001c0001t0141g0013
a0001c0001t0141g0013
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.581-22800_581-2279
others(110): Show 
c.581-22800_581-22799insGTCGGCCCCCCGCCCGGCCAGCCGCC
CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172112
chr5:76172122 A
A
 G
G
 185 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(182): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 185 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(182): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22797A>G
c.581-22797A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172122
chr5:76172123 G
G
 GC
GC
 4 a0001c0001t0005g0099
a0001c0001t0033g0003
a0001c0002t0108g0120
others(1): Show 
a0001c0001t0005g0099
a0001c0001t0033g0003
a0001c0002t0108g0120
a0003c0004t0140g0163
 4 HG01496.hp2
HG02602.hp2
NA19011.hp2
others(1): Show 
HG01496.hp2
HG02602.hp2
NA19011.hp2
NA19060.hp2
 intron_variant MODIFIER c.581-22793dupC
c.581-22793dupC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172123
chr5:76172126 CTCCGCCC
others(67): Show 
CTCCGCCCGGCCAGCCGCCCCGTCTGAGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAG
 C
C
 1 a0001c0001t0117g0012
a0001c0001t0117g0012
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.581-22792_581-2271
others(78): Show 
c.581-22792_581-22719delTCCGCCCGGCCAGCCGCCCCGTCTGA
GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172126
chr5:76172127 T
T
 C
C
 184 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(181): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 184 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(181): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22792T>C
c.581-22792T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172127
chr5:76172129 C
C
 CGCCCGGC
others(95): Show 
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCGGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGGGGTCGGCCCC
CCT
 1 a0001c0001t0004g0080
a0001c0001t0004g0080
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.581-22770_581-2276
others(106): Show 
c.581-22770_581-22769insCGGGAGGGAGGTGGGGGAGTCGGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGGGGTCGGC
CCCCCTGCCCGGCCAGCCGCCCCGTC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172129
chr5:76172129 C
C
 CGCCCGGC
others(48): Show 
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGGCC
CCCCCT
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.581-22770_581-2276
others(59): Show 
c.581-22770_581-22769insCGGGAGGGAGGTGGGGGGGGGGGTCG
GCCCCCCCTGCCCGGCCAGCCGCCCCGTC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172129
chr5:76172129 C
C
 CGCCCGGC
others(47): Show 
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGGCC
CCCCT
 1 a0001c0001t0012g0083
a0001c0001t0012g0083
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.581-22770_581-2276
others(58): Show 
c.581-22770_581-22769insCGGGAGGGAGGTGGGGGGGGGGGTCG
GCCCCCCTGCCCGGCCAGCCGCCCCGTC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172129
chr5:76172129 C
C
 CGCCCGGC
others(46): Show 
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCC
CCCT
 12 a0001c0001t0002g0224
a0001c0001t0012g0223
a0001c0001t0083g0204
others(9): Show 
a0001c0001t0002g0224
a0001c0001t0012g0223
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0002t0093g0205
a0001c0002t0149g0019
a0001c0007t0007g0078
a0002c0003t0026g0230
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
 12 HG01243.hp1
HG02451.hp1
HG02451.hp2
others(9): Show 
HG01243.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG02922.hp2
HG03225.hp2
HG03486.hp2
HG03540.hp2
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.581-22770_581-2276
others(57): Show 
c.581-22770_581-22769insCGGGAGGGAGGTGGGGGGGGGGTCGG
CCCCCCTGCCCGGCCAGCCGCCCCGTC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172129
chr5:76172129 C
C
 CGCCCGGC
others(97): Show 
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGGGGGGTCGGCC
CCCCT
 1 a0001c0002t0009g0186
a0001c0002t0009g0186
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.581-22770_581-2276
others(108): Show 
c.581-22770_581-22769insCGGGAGGGAGGTGGGGGGGTCGGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGGGGGGTCG
GCCCCCCTGCCCGGCCAGCCGCCCCGTC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172129
chr5:76172129 C
C
 CGCCCGGC
others(96): Show 
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGGCCC
CCCT
 1 a0001c0001t0018g0067
a0001c0001t0018g0067
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.581-22770_581-2276
others(107): Show 
c.581-22770_581-22769insCGGGAGGGAGGTGGGGGGGTCGGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGG
CCCCCCTGCCCGGCCAGCCGCCCCGTC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172129
chr5:76172129 C
C
 CGCCCGGC
others(95): Show 
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCC
CCT
 8 a0001c0001t0004g0229
a0001c0001t0046g0050
a0001c0007t0004g0075
others(5): Show 
a0001c0001t0004g0229
a0001c0001t0046g0050
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0119g0187
a0003c0004t0005g0161
 8 HG02258.hp1
HG02486.hp1
HG02976.hp1
others(5): Show 
HG02258.hp1
HG02486.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
NA18960.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.581-22770_581-2276
others(106): Show 
c.581-22770_581-22769insCGGGAGGGAGGTGGGGGGGTCGGCCC
CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGC
CCCCCTGCCCGGCCAGCCGCCCCGTC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172129
chr5:76172129 C
C
 CT
CT
 2 a0001c0001t0141g0013
a0001c0002t0114g0125
a0001c0001t0141g0013
a0001c0002t0114g0125
 2 HG02055.hp2
NA18952.hp2
HG02055.hp2
NA18952.hp2
 intron_variant MODIFIER c.581-22790_581-2278
others(5): Show 
c.581-22790_581-22789insT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172129
chr5:76172129 CGCCCGGC
others(71): Show 
CGCCCGGCCAGCCGCCCCGTCTGAGAGGTGAGGGGCGCCTCTGCCCGGCC
GCCCCTACTGGGAAGTGAGGAGCCCCTCT
 C
C
 104 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(101): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0011g0040
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0135
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0016g0101
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0019g0060
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 104 HG00423.hp1
HG00733.hp1
HG00735.hp1
others(101): Show 
HG00423.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp2
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18951.hp1
NA18951.hp2
NA18955.hp2
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19079.hp2
NA19083.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.581-22769_581-2269
others(82): Show 
c.581-22769_581-22692delTGAGAGGTGAGGGGCGCCTCTGCCCG
GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG
TC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172129
chr5:76172148 T
T
 C
C
 49 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(46): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0002c0003t0033g0169
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0007c0014t0005g0180
 49 HG00423.hp2
HG00558.hp1
HG00558.hp2
others(46): Show 
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00741.hp1
HG01074.hp1
HG01256.hp2
HG01496.hp2
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02523.hp2
HG02602.hp2
HG02738.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22771T>C
c.581-22771T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172148
chr5:76172150 T
T
 C
C
 78 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0224
others(75): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0141g0013
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0119g0187
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0007c0014t0005g0180
 78 HG00423.hp2
HG00558.hp1
HG00558.hp2
others(75): Show 
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01256.hp2
HG01496.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02735.hp2
HG02738.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp2
HG03486.hp2
HG03540.hp2
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22769T>C
c.581-22769T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172150
chr5:76172150 TGAGAGGT
others(71): Show 
TGAGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA
GCCCCTCTGCCCGGCCAGCCGCCCCGTCC
 T
T
 2 a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0010g0033
a0001c0001t0010g0037
 2 HG00280.hp2
HG00738.hp2
HG00280.hp2
HG00738.hp2
 intron_variant MODIFIER c.581-22767_581-2269
others(82): Show 
c.581-22767_581-22690delAGAGGTGAGGGGCGCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC
CG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172150
chr5:76172152 A
A
 G
G
 78 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0224
others(75): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0141g0013
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0119g0187
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0007c0014t0005g0180
 78 HG00423.hp2
HG00558.hp1
HG00558.hp2
others(75): Show 
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01256.hp2
HG01496.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02735.hp2
HG02738.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp2
HG03486.hp2
HG03540.hp2
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22767A>G
c.581-22767A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172152
chr5:76172156 GT
GT
 G
G
 51 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(48): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0043g0028
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0002c0003t0033g0169
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0007c0014t0005g0180
 51 HG00423.hp2
HG00558.hp1
HG00558.hp2
others(48): Show 
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00741.hp1
HG01074.hp1
HG01256.hp2
HG01496.hp2
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02523.hp2
HG02602.hp2
HG02735.hp2
HG02738.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22762delT
c.581-22762delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172156
chr5:76172160 G
G
 GGT
GGT
 50 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(47): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0043g0028
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0002c0003t0033g0169
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0007c0014t0005g0180
 50 HG00423.hp2
HG00558.hp1
HG00558.hp2
others(47): Show 
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00741.hp1
HG01074.hp1
HG01256.hp2
HG01496.hp2
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02523.hp2
HG02602.hp2
HG02735.hp2
HG02738.hp1
HG03834.hp1
HG03834.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22758_581-2275
others(6): Show 
c.581-22758_581-22757insTG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172160
chr5:76172161 GGGCGCCT
others(18): Show 
GGGCGCCTCTGCCCGGCCGCCCCTAC
 G
G
 1 a0001c0002t0015g0121
a0001c0002t0015g0121
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.581-22757_581-2273
others(29): Show 
c.581-22757_581-22733delGGCGCCTCTGCCCGGCCGCCCCTAC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172161
chr5:76172164 C
C
 G
G
 50 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(47): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0043g0028
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0002c0003t0033g0169
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0007c0014t0005g0180
 50 HG00423.hp2
HG00558.hp1
HG00558.hp2
others(47): Show 
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00741.hp1
HG01074.hp1
HG01256.hp2
HG01496.hp2
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02523.hp2
HG02602.hp2
HG02735.hp2
HG02738.hp1
HG03834.hp1
HG03834.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22755C>G
c.581-22755C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172164
chr5:76172165 G
G
 A
A
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-22754G>A
c.581-22754G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172165
chr5:76172166 C
C
 G
G
 50 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(47): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0043g0028
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0002c0003t0033g0169
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0007c0014t0005g0180
 50 HG00423.hp2
HG00558.hp1
HG00558.hp2
others(47): Show 
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00741.hp1
HG01074.hp1
HG01256.hp2
HG01496.hp2
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02523.hp2
HG02602.hp2
HG02735.hp2
HG02738.hp1
HG03834.hp1
HG03834.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22753C>G
c.581-22753C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172166
chr5:76172167 C
C
 G
G
 77 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0224
others(74): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0141g0013
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0119g0187
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0007c0014t0005g0180
 77 HG00423.hp2
HG00558.hp1
HG00558.hp2
others(74): Show 
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01256.hp2
HG01496.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02735.hp2
HG02738.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp2
HG03486.hp2
HG03540.hp2
HG03834.hp1
HG03834.hp2
HG04228.hp1
NA18522.hp1
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22752C>G
c.581-22752C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172167
chr5:76172170 T
T
 G
G
 50 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(47): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0043g0028
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0002c0003t0033g0169
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0007c0014t0005g0180
 50 HG00423.hp2
HG00558.hp1
HG00558.hp2
others(47): Show 
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00741.hp1
HG01074.hp1
HG01256.hp2
HG01496.hp2
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02523.hp2
HG02602.hp2
HG02735.hp2
HG02738.hp1
HG03834.hp1
HG03834.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22749T>G
c.581-22749T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172170
chr5:76172173 CCGGCCGC
others(20): Show 
CCGGCCGCCCCTACTGGGAAGTGAGGAG
 C
C
 50 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(47): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0043g0028
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0002c0003t0033g0169
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0007c0014t0005g0180
 50 HG00423.hp2
HG00558.hp1
HG00558.hp2
others(47): Show 
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00741.hp1
HG01074.hp1
HG01256.hp2
HG01496.hp2
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02523.hp2
HG02602.hp2
HG02735.hp2
HG02738.hp1
HG03834.hp1
HG03834.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22744_581-2271
others(31): Show 
c.581-22744_581-22718delGGCCGCCCCTACTGGGAAGTGAGGAG
C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172173
chr5:76172178 C
C
 CGCCCCTA
others(173): Show 
CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCTGTC
CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCATCC
GGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCG
TCCGGGAGGTGAGGGGCGCGTCTGCCCGGCT
 1 a0001c0001t0018g0044
a0001c0001t0018g0044
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.581-22696_581-2269
others(184): Show 
c.581-22696_581-22695insTGTCCGGGAGGGAGGTGGGGGGGTCG
GCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGGT
CGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCGTC
TGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC
GCCC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172178
chr5:76172178 C
C
 T
T
 27 a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
others(24): Show 
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0046g0050
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0141g0013
a0001c0002t0009g0186
a0001c0002t0093g0205
a0001c0002t0114g0125
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0026g0230
a0002c0003t0119g0187
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
 27 HG00642.hp2
HG01243.hp1
HG02055.hp2
others(24): Show 
HG00642.hp2
HG01243.hp1
HG02055.hp2
HG02056.hp1
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02647.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03225.hp2
HG03486.hp2
HG03540.hp2
NA18522.hp1
NA18952.hp2
NA18960.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.581-22741C>T
c.581-22741C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172178
chr5:76172194 T
T
 G
G
 1 a0001c0002t0015g0121
a0001c0002t0015g0121
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.581-22725T>G
c.581-22725T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172194
chr5:76172196 A
A
 G
G
 1 a0001c0002t0015g0121
a0001c0002t0015g0121
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.581-22723A>G
c.581-22723A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172196
chr5:76172197 G
G
 T
T
 1 a0001c0002t0015g0121
a0001c0002t0015g0121
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.581-22722G>T
c.581-22722G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172197
chr5:76172198 G
G
 C
C
 1 a0001c0002t0015g0121
a0001c0002t0015g0121
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.581-22721G>C
c.581-22721G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172198
chr5:76172199 A
A
 G
G
 1 a0001c0002t0015g0121
a0001c0002t0015g0121
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.581-22720A>G
c.581-22720A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172199
chr5:76172204 CTCT
CTCT
 C
C
 50 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(47): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0043g0028
a0001c0001t0056g0069
a0001c0001t0117g0012
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0002c0003t0033g0169
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0007c0014t0005g0180
 50 HG00423.hp2
HG00558.hp1
HG00558.hp2
others(47): Show 
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00741.hp1
HG01074.hp1
HG01256.hp2
HG01496.hp2
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02258.hp2
HG02523.hp2
HG02602.hp2
HG02735.hp2
HG02738.hp1
HG03834.hp1
HG03834.hp2
HG04228.hp1
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18990.hp1
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22714_581-2271
others(7): Show 
c.581-22714_581-22712delTCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172204
chr5:76172205 T
T
 C
C
 1 a0001c0002t0015g0121
a0001c0002t0015g0121
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.581-22714T>C
c.581-22714T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172205
chr5:76172207 T
T
 C
C
 1 a0001c0002t0015g0121
a0001c0002t0015g0121
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.581-22712T>C
c.581-22712T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172207
chr5:76172224 C
C
 T
T
 5 a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
others(2): Show 
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
a0001c0001t0081g0202
a0001c0001t0133g0157
 5 HG01255.hp2
HG01981.hp2
HG02280.hp1
others(2): Show 
HG01255.hp2
HG01981.hp2
HG02280.hp1
HG04199.hp2
HG04204.hp1
 intron_variant MODIFIER c.581-22695C>T
c.581-22695C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172224
chr5:76172248 C
C
 T
T
 1 a0001c0002t0020g0042
a0001c0002t0020g0042
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.581-22671C>T
c.581-22671C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172248
chr5:76172252 C
C
 G
G
 70 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(67): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0132g0009
a0001c0002t0006g0174
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0007c0014t0005g0180
 70 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(67): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG03041.hp1
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22667C>G
c.581-22667C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172252
chr5:76172273 CGTCCGGG
others(47): Show 
CGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCC
GCCCT
 C
C
 1 a0001c0002t0015g0138
a0001c0002t0015g0138
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.581-22635_581-2258
others(58): Show 
c.581-22635_581-22582delGAGGTGGGGGGGGGGGTCAGCCCCCC
CGCCCAGCCAGCCGCCCTGTCCGGGAGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172273
chr5:76172274 G
G
 A
A
 2 a0001c0001t0051g0035
a0001c0001t0133g0157
a0001c0001t0051g0035
a0001c0001t0133g0157
 2 HG04199.hp2
HG04204.hp1
HG04199.hp2
HG04204.hp1
 intron_variant MODIFIER c.581-22645G>A
c.581-22645G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172274
chr5:76172274 G
G
 T
T
 3 a0001c0002t0036g0014
a0003c0004t0009g0017
a0005c0011t0143g0015
a0001c0002t0036g0014
a0003c0004t0009g0017
a0005c0011t0143g0015
 3 HG02280.hp2
HG02717.hp2
NA20129.hp2
HG02280.hp2
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.581-22645G>T
c.581-22645G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172274
chr5:76172288 T
T
 TG
TG
 24 a0001c0001t0001g0031
a0001c0001t0002g0023
a0001c0001t0002g0024
others(21): Show 
a0001c0001t0001g0031
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0018g0044
a0001c0001t0070g0227
a0001c0001t0141g0013
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0035g0178
a0001c0002t0037g0194
a0001c0002t0144g0155
a0001c0002t0145g0189
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0154g0197
a0001c0007t0004g0075
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0006t0061g0049
a0003c0004t0009g0017
a0003c0004t0069g0022
a0003c0005t0116g0126
a0003c0005t0156g0193
 24 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(21): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00738.hp1
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01515.hp2
HG01891.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02698.hp2
HG02717.hp1
HG03471.hp2
HG04184.hp2
NA18906.hp1
NA18998.hp1
NA20129.hp2
 intron_variant MODIFIER c.581-22620dupG
c.581-22620dupG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172288
chr5:76172288 T
T
 TGGGGGGG
others(227): Show 
TGGGGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA
GGTGAGGGGCGCGTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCC
TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCC
CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
 1 a0001c0001t0024g0201
a0001c0001t0024g0201
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.581-22620_581-2261
others(238): Show 
c.581-22620_581-22619insGGTCGGCCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGCGCGTCTGCCCGGCTGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG
GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG
GGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172288
chr5:76172288 T
T
 TGGGGGGG
others(225): Show 
TGGGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCGTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
 1 a0001c0001t0024g0203
a0001c0001t0024g0203
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.581-22620_581-2261
others(236): Show 
c.581-22620_581-22619insGTCGGCCCCCCTGCCCGGCCAGCCGC
CCCGTCCGGGAGGTGAGGGGCGCGTCTGCCCGGCTGCCCCTACTGGGAAG
TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG
GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG
GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG
GGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172288
chr5:76172288 T
T
 TGGGGGGG
others(226): Show 
TGGGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG
GTGAGGGGCGCGTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCT
CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC
CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG
 1 a0001c0001t0081g0202
a0001c0001t0081g0202
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.581-22620_581-2261
others(237): Show 
c.581-22620_581-22619insGTCGGCCCCCCTGCCCGGCCAGCCGC
CCCGTCCGGGAGGTGAGGGGCGCGTCTGCCCGGCTGCCCCTACTGGGAAG
TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG
GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG
GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG
GGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172288
chr5:76172288 T
T
 TGGGGGGG
others(175): Show 
TGGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGG
TGAGGGGCGCGTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTC
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC
GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
 1 a0001c0001t0051g0035
a0001c0001t0051g0035
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.581-22618_581-2261
others(186): Show 
c.581-22618_581-22617insGGCCCCCCTGCCCGGCCAGCCGCCCC
GTCCGGGAGGTGAGGGGCGCGTCTGCCCGGCTGCCCCTACTGGGAAGTGA
GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG
TCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG
GGGGTC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172288
chr5:76172288 T
T
 TGGGGGGG
others(43): Show 
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
G
 9 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0223
others(6): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0223
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 9 HG00642.hp2
HG02258.hp1
HG02451.hp1
others(6): Show 
HG00642.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02647.hp1
HG02922.hp2
HG02976.hp1
 intron_variant MODIFIER c.581-22624_581-2262
others(54): Show 
c.581-22624_581-22623insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172288
chr5:76172288 T
T
 TGGGGGGG
others(44): Show 
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GG
 2 a0001c0001t0012g0083
a0001c0007t0007g0078
a0001c0001t0012g0083
a0001c0007t0007g0078
 2 HG02615.hp2
HG03225.hp2
HG02615.hp2
HG03225.hp2
 intron_variant MODIFIER c.581-22624_581-2262
others(55): Show 
c.581-22624_581-22623insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172288
chr5:76172288 T
T
 TGGGGGGG
others(272): Show 
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTG
AGGGGCGCGTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTTGGCCCCCCGC
CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCC
CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-22624_581-2262
others(283): Show 
c.581-22624_581-22623insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCG
CCCCGTCCGGGAGGTGAGGGGCGCGTCTGCCCGGCTGCCCCTACTGGGAA
GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGTTGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG
GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG
GGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172288
chr5:76172288 TG
TG
 T
T
 102 a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
others(99): Show 
a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0060g0052
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0031g0184
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0124g0183
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0016g0101
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 102 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(99): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02083.hp2
HG02109.hp2
HG02257.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04228.hp2
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18975.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp2
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22620delG
c.581-22620delG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172288
chr5:76172289 G
G
 C
C
 1 a0001c0002t0015g0121
a0001c0002t0015g0121
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.581-22630G>C
c.581-22630G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172289
chr5:76172289 G
G
 GGGGGGGT
others(42): Show 
GGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
 1 a0001c0009t0076g0213
a0001c0009t0076g0213
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.581-22624_581-2262
others(53): Show 
c.581-22624_581-22623insTCGGCCCCCCCGCCCGGCCAGCCGCC
CCGTCCGGGAGGGAGGTGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172289
chr5:76172289 G
G
 GGGGGGGT
others(41): Show 
GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
 5 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(2): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0003c0004t0019g0145
a0003c0004t0058g0051
 5 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(2): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-22624_581-2262
others(52): Show 
c.581-22624_581-22623insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172289
chr5:76172290 G
G
 GGGGGGTC
others(40): Show 
GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
 2 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0001t0004g0080
a0001c0002t0009g0186
 2 HG02965.hp1
NA20300.hp1
HG02965.hp1
NA20300.hp1
 intron_variant MODIFIER c.581-22624_581-2262
others(51): Show 
c.581-22624_581-22623insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172290
chr5:76172290 GGGGGGGG
others(123): Show 
GGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTG
AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG
CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
 G
G
 4 a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
others(1): Show 
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
 4 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(1): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.581-22620_581-2249
others(4): Show 
c.581-22620_581-22491del
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172290
chr5:76172292 GGGGGGGG
others(121): Show 
GGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAG
GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC
CGGCCAGCCGCCCCGTCCGGGAGGGAGGT
 G
G
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.581-22619_581-2249
others(4): Show 
c.581-22619_581-22492del
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172292
chr5:76172296 G
G
 T
T
 2 a0001c0001t0018g0067
a0003c0004t0005g0161
a0001c0001t0018g0067
a0003c0004t0005g0161
 2 HG02056.hp1
NA18960.hp1
HG02056.hp1
NA18960.hp1
 intron_variant MODIFIER c.581-22623G>T
c.581-22623G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172296
chr5:76172297 G
G
 C
C
 2 a0001c0001t0018g0067
a0003c0004t0005g0161
a0001c0001t0018g0067
a0003c0004t0005g0161
 2 HG02056.hp1
NA18960.hp1
HG02056.hp1
NA18960.hp1
 intron_variant MODIFIER c.581-22622G>C
c.581-22622G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172297
chr5:76172299 GTCAGC
GTCAGC
 G
G
 2 a0001c0001t0018g0067
a0003c0004t0005g0161
a0001c0001t0018g0067
a0003c0004t0005g0161
 2 HG02056.hp1
NA18960.hp1
HG02056.hp1
NA18960.hp1
 intron_variant MODIFIER c.581-22619_581-2261
others(9): Show 
c.581-22619_581-22615delTCAGC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172299
chr5:76172302 A
A
 G
G
 163 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(160): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 163 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(160): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22617A>G
c.581-22617A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172302
chr5:76172309 CCGCCCAG
others(72): Show 
CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC
CGCCCCTACTGGGAAGTGAGGAGCCCCTCT
 C
C
 6 a0001c0001t0083g0204
a0001c0002t0093g0205
a0001c0002t0114g0125
others(3): Show 
a0001c0001t0083g0204
a0001c0002t0093g0205
a0001c0002t0114g0125
a0001c0002t0149g0019
a0002c0003t0026g0230
a0003c0004t0012g0222
 6 HG01243.hp1
HG03486.hp2
HG03540.hp2
others(3): Show 
HG01243.hp1
HG03486.hp2
HG03540.hp2
NA18522.hp1
NA18952.hp2
NA19043.hp1
 intron_variant MODIFIER c.581-22609_581-2253
others(83): Show 
c.581-22609_581-22531delCGCCCAGCCAGCCGCCCTGTCCGGGA
GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC
TCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172309
chr5:76172310 C
C
 T
T
 157 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(154): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 157 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(154): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22609C>T
c.581-22609C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172310
chr5:76172315 A
A
 G
G
 159 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(156): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 159 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(156): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22604A>G
c.581-22604A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172315
chr5:76172327 T
T
 C
C
 159 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(156): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 159 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(156): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22592T>C
c.581-22592T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172327
chr5:76172331 C
C
 G
G
 3 a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 3 HG00733.hp1
HG02572.hp2
NA21309.hp2
HG00733.hp1
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.581-22588C>G
c.581-22588C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172331
chr5:76172337 GT
GT
 G
G
 2 a0001c0001t0018g0067
a0003c0004t0005g0161
a0001c0001t0018g0067
a0003c0004t0005g0161
 2 HG02056.hp1
NA18960.hp1
HG02056.hp1
NA18960.hp1
 intron_variant MODIFIER c.581-22581delT
c.581-22581delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172337
chr5:76172345 C
C
 G
G
 2 a0001c0001t0018g0067
a0003c0004t0005g0161
a0001c0001t0018g0067
a0003c0004t0005g0161
 2 HG02056.hp1
NA18960.hp1
HG02056.hp1
NA18960.hp1
 intron_variant MODIFIER c.581-22574C>G
c.581-22574C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172345
chr5:76172347 C
C
 G
G
 2 a0001c0001t0018g0067
a0003c0004t0005g0161
a0001c0001t0018g0067
a0003c0004t0005g0161
 2 HG02056.hp1
NA18960.hp1
HG02056.hp1
NA18960.hp1
 intron_variant MODIFIER c.581-22572C>G
c.581-22572C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172347
chr5:76172348 C
C
 G
G
 130 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0096
others(127): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 130 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(127): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp2
NA18990.hp2
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22571C>G
c.581-22571C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172348
chr5:76172351 T
T
 G
G
 2 a0001c0001t0018g0067
a0003c0004t0005g0161
a0001c0001t0018g0067
a0003c0004t0005g0161
 2 HG02056.hp1
NA18960.hp1
HG02056.hp1
NA18960.hp1
 intron_variant MODIFIER c.581-22568T>G
c.581-22568T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172351
chr5:76172354 CCGGCCGC
others(20): Show 
CCGGCCGCCCCTACTGGGAAGTGAGGAG
 C
C
 2 a0001c0001t0018g0067
a0003c0004t0005g0161
a0001c0001t0018g0067
a0003c0004t0005g0161
 2 HG02056.hp1
NA18960.hp1
HG02056.hp1
NA18960.hp1
 intron_variant MODIFIER c.581-22563_581-2253
others(31): Show 
c.581-22563_581-22537delGGCCGCCCCTACTGGGAAGTGAGGAG
C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172354
chr5:76172359 C
C
 T
T
 128 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0096
others(125): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 128 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(125): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp2
NA18990.hp2
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22560C>T
c.581-22560C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172359
chr5:76172385 CTCT
CTCT
 C
C
 2 a0001c0001t0018g0067
a0003c0004t0005g0161
a0001c0001t0018g0067
a0003c0004t0005g0161
 2 HG02056.hp1
NA18960.hp1
HG02056.hp1
NA18960.hp1
 intron_variant MODIFIER c.581-22533_581-2253
others(7): Show 
c.581-22533_581-22531delTCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172385
chr5:76172388 T
T
 TGCCCGGC
others(42): Show 
TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC
 51 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(48): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0119g0187
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
 51 HG00423.hp1
HG00642.hp2
HG00735.hp1
others(48): Show 
HG00423.hp1
HG00642.hp2
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02083.hp1
HG02258.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18955.hp2
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19043.hp2
NA19060.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.581-22492_581-2249
others(53): Show 
c.581-22492_581-22491insTCAGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172388
chr5:76172408 C
C
 CCGGGAGG
others(41): Show 
CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT
 4 a0001c0001t0001g0057
a0001c0001t0054g0063
a0001c0001t0055g0064
others(1): Show 
a0001c0001t0001g0057
a0001c0001t0054g0063
a0001c0001t0055g0064
a0002c0003t0059g0043
 4 HG02015.hp2
NA18951.hp2
NA18975.hp1
others(1): Show 
HG02015.hp2
NA18951.hp2
NA18975.hp1
NA19068.hp1
 intron_variant MODIFIER c.581-22492_581-2249
others(52): Show 
c.581-22492_581-22491insTCAGCCCCCCGCCCGGCCAGCCGCCC
CGTCGGGAGGGAGGTGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172408
chr5:76172420 T
T
 TGGGGGGG
others(47): Show 
TGGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG
GTGGG
 1 a0001c0001t0126g0172
a0001c0001t0126g0172
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.581-22489_581-2248
others(58): Show 
c.581-22489_581-22488insGGCCCCCCCGCCCGGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGGGGGTC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172420
chr5:76172420 T
T
 TGGGGGGG
others(47): Show 
TGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGG
 1 a0001c0002t0015g0121
a0001c0002t0015g0121
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.581-22492_581-2249
others(58): Show 
c.581-22492_581-22491insTCGGCCCCCCCGCCCGGCCAGCCGCC
CCGTCCGGGAGGGAGGTGGGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172420
chr5:76172420 T
T
 TGGGGGGG
others(97): Show 
TGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGG
 1 a0001c0002t0099g0132
a0001c0002t0099g0132
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.581-22492_581-2249
others(108): Show 
c.581-22492_581-22491insTCGGCCCCCCCGCCCGGCCAGCCGCC
CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172420
chr5:76172420 T
T
 TGGGGGGG
others(44): Show 
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GG
 1 a0001c0002t0096g0112
a0001c0002t0096g0112
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.581-22492_581-2249
others(55): Show 
c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172420
chr5:76172420 T
T
 TGGGGGGG
others(45): Show 
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGG
 22 a0001c0001t0001g0031
a0001c0001t0003g0165
a0001c0001t0005g0099
others(19): Show 
a0001c0001t0001g0031
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0133g0157
a0001c0002t0014g0134
a0001c0002t0020g0073
a0001c0002t0029g0146
a0001c0002t0098g0113
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0094g0142
a0003c0004t0016g0166
a0003c0004t0039g0062
a0003c0005t0019g0060
a0003c0005t0030g0137
a0007c0014t0005g0180
 22 HG00741.hp1
HG01943.hp1
HG02080.hp1
others(19): Show 
HG00741.hp1
HG01943.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02647.hp2
HG03540.hp1
HG03834.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18955.hp1
NA18968.hp1
NA18968.hp2
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19056.hp1
NA19063.hp1
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22492_581-2249
others(56): Show 
c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172420
chr5:76172420 T
T
 TGGGGGGG
others(46): Show 
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGG
 5 a0001c0001t0022g0108
a0001c0002t0108g0120
a0001c0002t0142g0001
others(2): Show 
a0001c0001t0022g0108
a0001c0002t0108g0120
a0001c0002t0142g0001
a0003c0004t0016g0164
a0003c0004t0140g0163
 5 HG00558.hp2
HG01496.hp2
HG02056.hp2
others(2): Show 
HG00558.hp2
HG01496.hp2
HG02056.hp2
HG02602.hp2
NA20300.hp2
 intron_variant MODIFIER c.581-22492_581-2249
others(57): Show 
c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172420
chr5:76172420 T
T
 TGGGGGGG
others(97): Show 
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGG
 1 a0001c0001t0141g0013
a0001c0001t0141g0013
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.581-22492_581-2249
others(108): Show 
c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172420
chr5:76172420 T
T
 TGGGGGGG
others(100): Show 
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGTCGGCCCCCCCGCCCCGGAGCCAGCCGCCCCGTCCGGGAGGGA
GGTGGGGG
 1 a0001c0001t0121g0097
a0001c0001t0121g0097
 1 NA19083.hp1
NA19083.hp1
 intron_variant MODIFIER c.581-22492_581-2249
others(111): Show 
c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCCGGAGCCAGCCG
CCCCGTCCGGGAGGGAGGTGGGGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172420
chr5:76172420 T
T
 TGGGGGGG
others(93): Show 
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
G
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.581-22492_581-2249
others(104): Show 
c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172420
chr5:76172420 T
T
 TGGGGGGG
others(94): Show 
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GG
 36 a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
others(33): Show 
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0023g0131
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0132g0009
a0001c0002t0020g0042
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0097g0114
a0001c0002t0101g0144
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0152g0199
a0001c0002t0153g0200
a0002c0006t0063g0053
a0003c0004t0026g0147
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0155g0149
 36 HG00280.hp2
HG00423.hp2
HG00733.hp1
others(33): Show 
HG00280.hp2
HG00423.hp2
HG00733.hp1
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01433.hp2
HG01884.hp2
HG02015.hp1
HG02572.hp1
HG02572.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG03041.hp1
NA18945.hp2
NA18952.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp2
NA19030.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA20905.hp2
 intron_variant MODIFIER c.581-22492_581-2249
others(105): Show 
c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172420
chr5:76172420 T
T
 TGGGGGGG
others(95): Show 
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGG
 45 a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
others(42): Show 
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0185
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0009g0008
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0025g0231
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0117g0012
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0135
a0001c0002t0110g0124
a0001c0002t0148g0158
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0008t0002g0216
a0003c0004t0016g0101
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0115g0139
a0004c0010t0027g0110
a0004c0010t0027g0111
 45 HG00558.hp1
HG00642.hp1
HG00735.hp2
others(42): Show 
HG00558.hp1
HG00642.hp1
HG00735.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01928.hp2
HG01943.hp2
HG02055.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02630.hp2
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp1
HG03704.hp2
HG04199.hp1
NA18522.hp2
NA18945.hp1
NA18954.hp1
NA18954.hp2
NA18990.hp2
NA18998.hp2
NA19007.hp2
NA19030.hp1
NA19072.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.581-22492_581-2249
others(106): Show 
c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172420
chr5:76172420 T
T
 TGGGGGGG
others(96): Show 
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGG
 4 a0001c0001t0131g0181
a0001c0001t0136g0095
a0001c0002t0029g0141
others(1): Show 
a0001c0001t0131g0181
a0001c0001t0136g0095
a0001c0002t0029g0141
a0002c0003t0017g0030
 4 HG01255.hp1
HG02976.hp2
HG03139.hp2
others(1): Show 
HG01255.hp1
HG02976.hp2
HG03139.hp2
NA19001.hp1
 intron_variant MODIFIER c.581-22492_581-2249
others(107): Show 
c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172420
chr5:76172420 T
T
 TGGGGGGG
others(97): Show 
TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GGGGG
 2 a0001c0001t0005g0100
a0002c0003t0072g0143
a0001c0001t0005g0100
a0002c0003t0072g0143
 2 NA18951.hp1
NA18981.hp2
NA18951.hp1
NA18981.hp2
 intron_variant MODIFIER c.581-22492_581-2249
others(108): Show 
c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172420
chr5:76172420 T
T
 TGGGGGGG
others(94): Show 
TGGGGGGGTCGGCCCCCCGCCCGGCCTGCCGCCCCGTCCGGGAGGGAGGT
GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG
GG
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.581-22492_581-2249
others(105): Show 
c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCTGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172420
chr5:76172420 T
T
 TTGG
TTGG
 2 a0001c0002t0093g0205
a0001c0002t0149g0019
a0001c0002t0093g0205
a0001c0002t0149g0019
 2 HG03540.hp2
NA19043.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.581-22499_581-2249
others(7): Show 
c.581-22499_581-22498insTGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172420
chr5:76172426 G
G
 GGTCGGCC
others(99): Show 
GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG
GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG
GGGGGGT
 1 a0001c0002t0025g0232
a0001c0002t0025g0232
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.581-22492_581-2249
others(110): Show 
c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGGGGGGGTG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172426
chr5:76172426 G
G
 GGTCGGCC
others(98): Show 
GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG
GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG
GGGGGT
 1 a0001c0002t0109g0209
a0001c0002t0109g0209
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.581-22492_581-2249
others(109): Show 
c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGGGGGGTG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172426
chr5:76172426 G
G
 GGTCGGCC
others(96): Show 
GGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG
GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG
GGGT
 1 a0002c0006t0095g0091
a0002c0006t0095g0091
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.581-22492_581-2249
others(107): Show 
c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC
CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC
GTCCGGGAGGGAGGTGGGGGGGGGGTG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172426
chr5:76172431 A
A
 G
G
 4 a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
others(1): Show 
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
 4 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(1): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.581-22488A>G
c.581-22488A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172431
chr5:76172439 C
C
 T
T
 10 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(7): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 10 HG02083.hp1
HG02523.hp1
HG02723.hp1
others(7): Show 
HG02083.hp1
HG02523.hp1
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-22480C>T
c.581-22480C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172439
chr5:76172444 A
A
 G
G
 4 a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
others(1): Show 
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
 4 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(1): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.581-22475A>G
c.581-22475A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172444
chr5:76172456 T
T
 C
C
 4 a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
others(1): Show 
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
 4 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(1): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.581-22463T>C
c.581-22463T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172456
chr5:76172512 C
C
 CCCTCTGC
others(87): Show 
CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTC
AGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCG
 1 a0001c0001t0133g0157
a0001c0001t0133g0157
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.581-22393_581-2239
others(98): Show 
c.581-22393_581-22392insGCCGCCCCGTCCGGGAGGGAGGTGGG
GGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGG
GGCGCCTCTGCCCGGCCA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76172512
chr5:76172513 C
C
 A
A
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-22406C>A
c.581-22406C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172513
chr5:76172561 T
T
 C
C
 3 a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0133g0157
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0133g0157
 3 HG04199.hp2
HG04204.hp1
NA18998.hp1
HG04199.hp2
HG04204.hp1
NA18998.hp1
 intron_variant MODIFIER c.581-22358T>C
c.581-22358T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172561
chr5:76172604 A
A
 C
C
 3 a0001c0002t0025g0232
a0001c0002t0109g0209
a0002c0006t0095g0091
a0001c0002t0025g0232
a0001c0002t0109g0209
a0002c0006t0095g0091
 3 HG01891.hp2
HG02615.hp1
HG02809.hp1
HG01891.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.581-22315A>C
c.581-22315A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172604
chr5:76172728 TG
TG
 T
T
 6 a0001c0001t0003g0165
a0001c0002t0142g0001
a0003c0004t0016g0164
others(3): Show 
a0001c0001t0003g0165
a0001c0002t0142g0001
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0019g0060
 6 HG00741.hp1
HG01496.hp2
HG01943.hp1
others(3): Show 
HG00741.hp1
HG01496.hp2
HG01943.hp1
HG02056.hp2
NA19005.hp1
NA20300.hp2
 intron_variant MODIFIER c.581-22190delG
c.581-22190delG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172728
chr5:76172873 A
A
 C
C
 188 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(185): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 188 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(185): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22046A>C
c.581-22046A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172873
chr5:76172890 C
C
 A
A
 195 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(192): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 195 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(192): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22029C>A
c.581-22029C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172890
chr5:76172891 C
C
 T
T
 195 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(192): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 195 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(192): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-22028C>T
c.581-22028C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76172891
chr5:76173020 G
G
 A
A
 1 a0003c0004t0139g0016
a0003c0004t0139g0016
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.581-21899G>A
c.581-21899G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76173020
chr5:76173064 A
A
 AT
AT
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-21855_581-2185
others(5): Show 
c.581-21855_581-21854insT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76173064
chr5:76173066 T
T
 C
C
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-21853T>C
c.581-21853T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76173066
chr5:76173068 C
C
 A
A
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-21851C>A
c.581-21851C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76173068
chr5:76173068 CA
CA
 C
C
 122 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0224
others(119): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0004g0219
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0127
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0007g0078
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0005c0011t0143g0015
a0007c0014t0005g0180
 122 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(119): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-21838delA
c.581-21838delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76173068
chr5:76173068 CAA
CAA
 C
C
 13 a0001c0001t0002g0094
a0001c0001t0004g0229
a0001c0001t0007g0122
others(10): Show 
a0001c0001t0002g0094
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0022g0108
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0088g0123
a0001c0002t0101g0144
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0119g0187
 13 HG00558.hp2
HG02258.hp1
HG02451.hp2
others(10): Show 
HG00558.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02735.hp1
HG02735.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.581-21839_581-2183
others(6): Show 
c.581-21839_581-21838delAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76173068
chr5:76173165 A
A
 G
G
 5 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(2): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
a0003c0004t0066g0086
 5 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(2): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.581-21754A>G
c.581-21754A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76173165
chr5:76173209 A
A
 C
C
 2 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0001t0004g0080
a0001c0002t0009g0186
 2 HG02965.hp1
NA20300.hp1
HG02965.hp1
NA20300.hp1
 intron_variant MODIFIER c.581-21710A>C
c.581-21710A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76173209
chr5:76173285 A
A
 C
C
 4 a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
others(1): Show 
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
 4 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(1): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.581-21634A>C
c.581-21634A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76173285
chr5:76173464 G
G
 T
T
 1 a0001c0002t0015g0121
a0001c0002t0015g0121
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.581-21455G>T
c.581-21455G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76173464
chr5:76173953 C
C
 T
T
 8 a0001c0001t0002g0094
a0001c0001t0013g0085
a0001c0001t0065g0233
others(5): Show 
a0001c0001t0002g0094
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 8 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(5): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03195.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-20966C>T
c.581-20966C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76173953
chr5:76173971 G
G
 A
A
 1 a0002c0006t0147g0195
a0002c0006t0147g0195
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.581-20948G>A
c.581-20948G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76173971
chr5:76174060 C
C
 T
T
 8 a0001c0001t0002g0094
a0001c0001t0013g0085
a0001c0001t0065g0233
others(5): Show 
a0001c0001t0002g0094
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 8 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(5): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03195.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-20859C>T
c.581-20859C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174060
chr5:76174064 A
A
 G
G
 3 a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0081g0202
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0081g0202
 3 HG01255.hp2
HG01981.hp2
HG02280.hp1
HG01255.hp2
HG01981.hp2
HG02280.hp1
 intron_variant MODIFIER c.581-20855A>G
c.581-20855A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174064
chr5:76174080 G
G
 A
A
 1 a0001c0001t0131g0181
a0001c0001t0131g0181
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.581-20839G>A
c.581-20839G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174080
chr5:76174179 C
C
 T
T
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-20740C>T
c.581-20740C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174179
chr5:76174236 G
G
 A
A
 3 a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.581-20683G>A
c.581-20683G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174236
chr5:76174240 T
T
 C
C
 5 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(2): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
a0003c0004t0066g0086
 5 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(2): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.581-20679T>C
c.581-20679T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174240
chr5:76174261 T
T
 C
C
 196 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(193): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 196 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(193): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-20658T>C
c.581-20658T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174261
chr5:76174262 G
G
 A
A
 1 a0002c0003t0044g0074
a0002c0003t0044g0074
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.581-20657G>A
c.581-20657G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174262
chr5:76174296 G
G
 T
T
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-20623G>T
c.581-20623G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174296
chr5:76174301 T
T
 A
A
 1 a0001c0001t0042g0072
a0001c0001t0042g0072
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.581-20618T>A
c.581-20618T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174301
chr5:76174316 G
G
 A
A
 1 a0001c0001t0005g0162
a0001c0001t0005g0162
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.581-20603G>A
c.581-20603G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174316
chr5:76174321 G
G
 A
A
 1 a0001c0001t0009g0008
a0001c0001t0009g0008
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.581-20598G>A
c.581-20598G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174321
chr5:76174604 T
T
 C
C
 14 a0001c0001t0002g0094
a0001c0001t0013g0085
a0001c0001t0022g0214
others(11): Show 
a0001c0001t0002g0094
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0102g0234
a0001c0009t0076g0213
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
 14 HG01496.hp1
HG02083.hp1
HG02523.hp1
others(11): Show 
HG01496.hp1
HG02083.hp1
HG02523.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03195.hp2
HG03209.hp2
HG03486.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-20315T>C
c.581-20315T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174604
chr5:76174613 C
C
 T
T
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-20306C>T
c.581-20306C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174613
chr5:76174827 G
G
 A
A
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-20092G>A
c.581-20092G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174827
chr5:76174991 T
T
 G
G
 202 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(199): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 202 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(199): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-19928T>G
c.581-19928T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76174991
chr5:76175010 G
G
 A
A
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-19909G>A
c.581-19909G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76175010
chr5:76175195 C
C
 T
T
 1 a0001c0007t0004g0079
a0001c0007t0004g0079
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.581-19724C>T
c.581-19724C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76175195
chr5:76175415 G
G
 GAT
GAT
 4 a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0073g0089
others(1): Show 
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 4 HG00733.hp1
HG02083.hp2
HG02572.hp2
others(1): Show 
HG00733.hp1
HG02083.hp2
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.581-19493_581-1949
others(6): Show 
c.581-19493_581-19492dupAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76175415
chr5:76175429 G
G
 A
A
 13 a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
others(10): Show 
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0102g0234
a0001c0009t0076g0213
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
 13 HG01496.hp1
HG02083.hp1
HG02523.hp1
others(10): Show 
HG01496.hp1
HG02083.hp1
HG02523.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-19490G>A
c.581-19490G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76175429
chr5:76175457 G
G
 C
C
 13 a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
others(10): Show 
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0102g0234
a0001c0009t0076g0213
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
 13 HG01496.hp1
HG02083.hp1
HG02523.hp1
others(10): Show 
HG01496.hp1
HG02083.hp1
HG02523.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-19462G>C
c.581-19462G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76175457
chr5:76175466 A
A
 G
G
 188 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(185): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 188 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(185): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-19453A>G
c.581-19453A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76175466
chr5:76175562 C
C
 G
G
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-19357C>G
c.581-19357C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76175562
chr5:76175566 A
A
 G
G
 1 a0001c0001t0003g0171
a0001c0001t0003g0171
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.581-19353A>G
c.581-19353A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76175566
chr5:76175592 T
T
 C
C
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.581-19327T>C
c.581-19327T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76175592
chr5:76175621 G
G
 C
C
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-19298G>C
c.581-19298G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76175621
chr5:76175654 T
T
 C
C
 8 a0001c0001t0004g0229
a0001c0001t0046g0050
a0001c0001t0088g0123
others(5): Show 
a0001c0001t0004g0229
a0001c0001t0046g0050
a0001c0001t0088g0123
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0119g0187
 8 HG02258.hp1
HG02451.hp2
HG02486.hp1
others(5): Show 
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.581-19265T>C
c.581-19265T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76175654
chr5:76175668 A
A
 G
G
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-19251A>G
c.581-19251A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76175668
chr5:76175700 T
T
 C
C
 1 a0001c0001t0002g0023
a0001c0001t0002g0023
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.581-19219T>C
c.581-19219T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76175700
chr5:76175835 A
A
 G
G
 1 a0001c0001t0126g0172
a0001c0001t0126g0172
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.581-19084A>G
c.581-19084A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76175835
chr5:76175892 C
C
 T
T
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-19027C>T
c.581-19027C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76175892
chr5:76176082 G
G
 A
A
 1 a0001c0002t0146g0175
a0001c0002t0146g0175
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.581-18837G>A
c.581-18837G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76176082
chr5:76176155 G
G
 T
T
 2 a0001c0002t0025g0232
a0001c0002t0109g0209
a0001c0002t0025g0232
a0001c0002t0109g0209
 2 HG01891.hp2
HG02809.hp1
HG01891.hp2
HG02809.hp1
 intron_variant MODIFIER c.581-18764G>T
c.581-18764G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76176155
chr5:76176208 C
C
 T
T
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-18711C>T
c.581-18711C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76176208
chr5:76176319 G
G
 A
A
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-18600G>A
c.581-18600G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76176319
chr5:76176379 C
C
 T
T
 129 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0096
others(126): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0127
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 129 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(126): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp2
NA18990.hp2
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-18540C>T
c.581-18540C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76176379
chr5:76176382 G
G
 A
A
 199 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(196): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 199 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(196): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-18537G>A
c.581-18537G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76176382
chr5:76176384 C
C
 A
A
 2 a0001c0001t0011g0056
a0002c0003t0033g0169
a0001c0001t0011g0056
a0002c0003t0033g0169
 2 NA18968.hp1
NA18968.hp2
NA18968.hp1
NA18968.hp2
 intron_variant MODIFIER c.581-18535C>A
c.581-18535C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76176384
chr5:76176539 C
C
 A
A
 1 a0001c0002t0142g0001
a0001c0002t0142g0001
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.581-18380C>A
c.581-18380C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76176539
chr5:76176576 T
T
 C
C
 188 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(185): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 188 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(185): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-18343T>C
c.581-18343T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76176576
chr5:76176845 G
G
 A
A
 5 a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
others(2): Show 
a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
 5 HG02486.hp1
HG03098.hp1
HG03139.hp1
others(2): Show 
HG02486.hp1
HG03098.hp1
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.581-18074G>A
c.581-18074G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76176845
chr5:76176878 G
G
 T
T
 1 a0001c0001t0117g0012
a0001c0001t0117g0012
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.581-18041G>T
c.581-18041G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76176878
chr5:76176987 C
C
 T
T
 2 a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0021g0105
a0002c0003t0067g0109
 2 NA19079.hp1
NA19084.hp2
NA19079.hp1
NA19084.hp2
 intron_variant MODIFIER c.581-17932C>T
c.581-17932C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76176987
chr5:76176989 T
T
 C
C
 2 a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0021g0105
a0002c0003t0067g0109
 2 NA19079.hp1
NA19084.hp2
NA19079.hp1
NA19084.hp2
 intron_variant MODIFIER c.581-17930T>C
c.581-17930T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76176989
chr5:76177020 C
C
 A
A
 188 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(185): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 188 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(185): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-17899C>A
c.581-17899C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177020
chr5:76177091 G
G
 A
A
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-17828G>A
c.581-17828G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177091
chr5:76177114 C
C
 CA
CA
 186 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(183): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 186 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(183): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-17795dupA
c.581-17795dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76177114
chr5:76177136 A
A
 G
G
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-17783A>G
c.581-17783A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177136
chr5:76177164 A
A
 T
T
 1 a0001c0001t0005g0100
a0001c0001t0005g0100
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.581-17755A>T
c.581-17755A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177164
chr5:76177176 TAATC
TAATC
 T
T
 2 a0001c0001t0011g0040
a0001c0001t0088g0123
a0001c0001t0011g0040
a0001c0001t0088g0123
 2 HG02451.hp2
HG02723.hp2
HG02451.hp2
HG02723.hp2
 intron_variant MODIFIER c.581-17739_581-1773
others(8): Show 
c.581-17739_581-17736delCAAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76177176
chr5:76177191 ATATTAAT
others(6): Show 
ATATTAATATATAC
 A
A
 4 a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
others(1): Show 
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
 4 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(1): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.581-17727_581-1771
others(17): Show 
c.581-17727_581-17715delTATTAATATATAC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177191
chr5:76177194 TTAATATA
others(6): Show 
TTAATATATACAAA
 T
T
 197 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(194): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 197 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(194): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-17709_581-1769
others(17): Show 
c.581-17709_581-17697delATATATACAAATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76177194
chr5:76177207 A
A
 T
T
 4 a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
others(1): Show 
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
 4 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(1): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.581-17712A>T
c.581-17712A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177207
chr5:76177230 C
C
 CTA
CTA
 152 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0096
others(149): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0127
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 152 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(149): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp2
NA18990.hp2
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-17688_581-1768
others(6): Show 
c.581-17688_581-17687insAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76177230
chr5:76177232 G
G
 A
A
 202 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(199): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 202 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(199): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-17687G>A
c.581-17687G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177232
chr5:76177236 A
A
 ATT
ATT
 49 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(46): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0224
a0001c0001t0003g0171
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0131g0181
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0036g0014
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0091g0107
a0005c0011t0143g0015
 49 HG00423.hp1
HG00642.hp2
HG00733.hp1
others(46): Show 
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03471.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.581-17682_581-1768
others(6): Show 
c.581-17682_581-17681insTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76177236
chr5:76177346 G
G
 A
A
 188 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(185): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 188 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(185): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-17573G>A
c.581-17573G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177346
chr5:76177364 C
C
 T
T
 2 a0001c0001t0004g0080
a0001c0002t0009g0186
a0001c0001t0004g0080
a0001c0002t0009g0186
 2 HG02965.hp1
NA20300.hp1
HG02965.hp1
NA20300.hp1
 intron_variant MODIFIER c.581-17555C>T
c.581-17555C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177364
chr5:76177412 A
A
 G
G
 1 a0001c0002t0009g0186
a0001c0002t0009g0186
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.581-17507A>G
c.581-17507A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177412
chr5:76177442 G
G
 A
A
 5 a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0128g0006
others(2): Show 
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0128g0006
a0001c0001t0130g0010
a0003c0004t0045g0048
 5 HG00735.hp2
HG02145.hp1
HG02970.hp1
others(2): Show 
HG00735.hp2
HG02145.hp1
HG02970.hp1
HG03098.hp2
NA19240.hp1
 intron_variant MODIFIER c.581-17477G>A
c.581-17477G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177442
chr5:76177492 A
A
 G
G
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-17427A>G
c.581-17427A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177492
chr5:76177502 CAA
CAA
 C
C
 3 a0001c0002t0036g0014
a0003c0004t0009g0017
a0005c0011t0143g0015
a0001c0002t0036g0014
a0003c0004t0009g0017
a0005c0011t0143g0015
 3 HG02280.hp2
HG02717.hp2
NA20129.hp2
HG02280.hp2
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.581-17416_581-1741
others(6): Show 
c.581-17416_581-17415delAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177502
chr5:76177576 G
G
 A
A
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-17343G>A
c.581-17343G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177576
chr5:76177733 C
C
 A
A
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-17186C>A
c.581-17186C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177733
chr5:76177800 CAG
CAG
 C
C
 13 a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
others(10): Show 
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0102g0234
a0001c0009t0076g0213
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
 13 HG01496.hp1
HG02083.hp1
HG02523.hp1
others(10): Show 
HG01496.hp1
HG02083.hp1
HG02523.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-17118_581-1711
others(6): Show 
c.581-17118_581-17117delAG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177800
chr5:76177842 G
G
 T
T
 1 a0001c0001t0023g0131
a0001c0001t0023g0131
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.581-17077G>T
c.581-17077G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76177842
chr5:76178070 A
A
 C
C
 1 a0002c0006t0095g0091
a0002c0006t0095g0091
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.581-16849A>C
c.581-16849A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76178070
chr5:76178111 C
C
 T
T
 1 a0001c0002t0015g0135
a0001c0002t0015g0135
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.581-16808C>T
c.581-16808C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76178111
chr5:76178150 G
G
 A
A
 3 a0001c0002t0036g0014
a0003c0004t0009g0017
a0005c0011t0143g0015
a0001c0002t0036g0014
a0003c0004t0009g0017
a0005c0011t0143g0015
 3 HG02280.hp2
HG02717.hp2
NA20129.hp2
HG02280.hp2
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.581-16769G>A
c.581-16769G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76178150
chr5:76178289 T
T
 A
A
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-16630T>A
c.581-16630T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76178289
chr5:76178375 A
A
 G
G
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-16544A>G
c.581-16544A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76178375
chr5:76178384 C
C
 A
A
 130 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0096
others(127): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0127
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 130 HG00280.hp2
HG00423.hp2
HG00558.hp1
others(127): Show 
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp2
NA18990.hp2
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-16535C>A
c.581-16535C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76178384
chr5:76178433 G
G
 A
A
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-16486G>A
c.581-16486G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76178433
chr5:76178620 C
C
 T
T
 1 a0001c0001t0141g0013
a0001c0001t0141g0013
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.581-16299C>T
c.581-16299C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76178620
chr5:76178625 T
T
 C
C
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-16294T>C
c.581-16294T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76178625
chr5:76178800 A
A
 G
G
 1 a0001c0001t0141g0013
a0001c0001t0141g0013
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.581-16119A>G
c.581-16119A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76178800
chr5:76178928 C
C
 T
T
 13 a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
others(10): Show 
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0102g0234
a0001c0009t0076g0213
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
 13 HG01496.hp1
HG02083.hp1
HG02523.hp1
others(10): Show 
HG01496.hp1
HG02083.hp1
HG02523.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-15991C>T
c.581-15991C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76178928
chr5:76178955 C
C
 T
T
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-15964C>T
c.581-15964C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76178955
chr5:76179096 C
C
 T
T
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-15823C>T
c.581-15823C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76179096
chr5:76179137 C
C
 T
T
 1 a0003c0004t0026g0147
a0003c0004t0026g0147
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.581-15782C>T
c.581-15782C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76179137
chr5:76179177 C
C
 G
G
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-15742C>G
c.581-15742C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76179177
chr5:76179197 T
T
 C
C
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-15722T>C
c.581-15722T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76179197
chr5:76179433 T
T
 C
C
 188 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(185): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 188 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(185): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-15486T>C
c.581-15486T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76179433
chr5:76179632 G
G
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.581-15287G>C
c.581-15287G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76179632
chr5:76179643 A
A
 G
G
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-15276A>G
c.581-15276A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76179643
chr5:76179781 G
G
 A
A
 25 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(22): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0003g0171
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0023g0102
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0090g0106
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0015g0138
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0059g0043
a0002c0003t0067g0109
a0003c0004t0038g0066
a0003c0004t0091g0107
 25 HG00423.hp1
HG00735.hp1
HG01928.hp1
others(22): Show 
HG00423.hp1
HG00735.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.581-15138G>A
c.581-15138G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76179781
chr5:76179837 G
G
 T
T
 3 a0001c0009t0031g0184
a0001c0009t0134g0182
a0002c0003t0124g0183
a0001c0009t0031g0184
a0001c0009t0134g0182
a0002c0003t0124g0183
 3 HG01361.hp2
HG01433.hp1
HG01928.hp2
HG01361.hp2
HG01433.hp1
HG01928.hp2
 intron_variant MODIFIER c.581-15082G>T
c.581-15082G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76179837
chr5:76179947 G
G
 GA
GA
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-14964dupA
c.581-14964dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76179947
chr5:76180043 G
G
 C
C
 3 a0001c0002t0036g0014
a0003c0004t0009g0017
a0005c0011t0143g0015
a0001c0002t0036g0014
a0003c0004t0009g0017
a0005c0011t0143g0015
 3 HG02280.hp2
HG02717.hp2
NA20129.hp2
HG02280.hp2
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.581-14876G>C
c.581-14876G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180043
chr5:76180073 T
T
 C
C
 1 a0001c0002t0006g0192
a0001c0002t0006g0192
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.581-14846T>C
c.581-14846T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180073
chr5:76180281 G
G
 A
A
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-14638G>A
c.581-14638G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180281
chr5:76180283 G
G
 A
A
 3 a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.581-14636G>A
c.581-14636G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180283
chr5:76180295 A
A
 G
G
 3 a0001c0001t0090g0106
a0001c0001t0137g0159
a0003c0004t0091g0107
a0001c0001t0090g0106
a0001c0001t0137g0159
a0003c0004t0091g0107
 3 HG00735.hp1
HG01981.hp1
HG02300.hp1
HG00735.hp1
HG01981.hp1
HG02300.hp1
 intron_variant MODIFIER c.581-14624A>G
c.581-14624A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180295
chr5:76180341 T
T
 C
C
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-14578T>C
c.581-14578T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180341
chr5:76180378 A
A
 G
G
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-14541A>G
c.581-14541A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180378
chr5:76180394 C
C
 G
G
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-14525C>G
c.581-14525C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180394
chr5:76180539 C
C
 T
T
 13 a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
others(10): Show 
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0102g0234
a0001c0009t0076g0213
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
 13 HG01496.hp1
HG02083.hp1
HG02523.hp1
others(10): Show 
HG01496.hp1
HG02083.hp1
HG02523.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-14380C>T
c.581-14380C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180539
chr5:76180616 A
A
 G
G
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-14303A>G
c.581-14303A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180616
chr5:76180673 C
C
 T
T
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-14246C>T
c.581-14246C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180673
chr5:76180691 G
G
 A
A
 1 a0001c0001t0022g0108
a0001c0001t0022g0108
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.581-14228G>A
c.581-14228G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180691
chr5:76180731 C
C
 T
T
 1 a0003c0005t0019g0060
a0003c0005t0019g0060
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.581-14188C>T
c.581-14188C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180731
chr5:76180902 C
C
 T
T
 195 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(192): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 195 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(192): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-14017C>T
c.581-14017C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180902
chr5:76180941 A
A
 G
G
 3 a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 3 HG00733.hp1
HG02572.hp2
NA21309.hp2
HG00733.hp1
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.581-13978A>G
c.581-13978A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76180941
chr5:76181098 T
T
 TC
TC
 201 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 201 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(198): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-13816dupC
c.581-13816dupC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76181098
chr5:76181174 A
A
 G
G
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-13745A>G
c.581-13745A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76181174
chr5:76181225 A
A
 G
G
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.581-13694A>G
c.581-13694A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76181225
chr5:76181336 A
A
 G
G
 1 a0003c0005t0034g0173
a0003c0005t0034g0173
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.581-13583A>G
c.581-13583A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76181336
chr5:76181376 T
T
 C
C
 195 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(192): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 195 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(192): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-13543T>C
c.581-13543T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76181376
chr5:76181390 T
T
 C
C
 195 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(192): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 195 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(192): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-13529T>C
c.581-13529T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76181390
chr5:76181518 T
T
 C
C
 1 a0001c0002t0009g0186
a0001c0002t0009g0186
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.581-13401T>C
c.581-13401T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76181518
chr5:76181547 C
C
 G
G
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.581-13372C>G
c.581-13372C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76181547
chr5:76181624 C
C
 T
T
 3 a0001c0001t0040g0070
a0001c0001t0042g0072
a0003c0004t0057g0071
a0001c0001t0040g0070
a0001c0001t0042g0072
a0003c0004t0057g0071
 3 HG01884.hp1
HG02630.hp1
HG03195.hp1
HG01884.hp1
HG02630.hp1
HG03195.hp1
 intron_variant MODIFIER c.581-13295C>T
c.581-13295C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76181624
chr5:76181635 C
C
 T
T
 5 a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
others(2): Show 
a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
 5 HG02486.hp1
HG03098.hp1
HG03139.hp1
others(2): Show 
HG02486.hp1
HG03098.hp1
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.581-13284C>T
c.581-13284C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76181635
chr5:76181729 G
G
 A
A
 5 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(2): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
a0003c0004t0066g0086
 5 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(2): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.581-13190G>A
c.581-13190G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76181729
chr5:76181838 A
A
 G
G
 212 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(209): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 212 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(209): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-13081A>G
c.581-13081A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76181838
chr5:76182016 C
C
 A
A
 1 a0001c0001t0031g0179
a0001c0001t0031g0179
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.581-12903C>A
c.581-12903C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182016
chr5:76182079 T
T
 G
G
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-12840T>G
c.581-12840T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182079
chr5:76182145 G
G
 C
C
 1 a0001c0007t0007g0078
a0001c0007t0007g0078
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.581-12774G>C
c.581-12774G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182145
chr5:76182248 C
C
 T
T
 2 a0004c0010t0027g0110
a0004c0010t0027g0111
a0004c0010t0027g0110
a0004c0010t0027g0111
 2 HG00741.hp2
HG01106.hp1
HG00741.hp2
HG01106.hp1
 intron_variant MODIFIER c.581-12671C>T
c.581-12671C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182248
chr5:76182391 T
T
 A
A
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-12528T>A
c.581-12528T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182391
chr5:76182577 C
C
 T
T
 3 a0001c0001t0007g0093
a0001c0001t0009g0008
a0001c0001t0125g0007
a0001c0001t0007g0093
a0001c0001t0009g0008
a0001c0001t0125g0007
 3 HG02257.hp2
HG02630.hp2
HG03041.hp2
HG02257.hp2
HG02630.hp2
HG03041.hp2
 intron_variant MODIFIER c.581-12342C>T
c.581-12342C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182577
chr5:76182787 C
C
 T
T
 3 a0001c0002t0025g0232
a0001c0002t0109g0209
a0002c0006t0095g0091
a0001c0002t0025g0232
a0001c0002t0109g0209
a0002c0006t0095g0091
 3 HG01891.hp2
HG02615.hp1
HG02809.hp1
HG01891.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.581-12132C>T
c.581-12132C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182787
chr5:76182817 G
G
 A
A
 3 a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 3 HG00733.hp1
HG02572.hp2
NA21309.hp2
HG00733.hp1
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.581-12102G>A
c.581-12102G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182817
chr5:76182918 A
A
 AGT
AGT
 10 a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
others(7): Show 
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0002c0003t0080g0084
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
 10 HG02083.hp1
HG02523.hp1
HG02886.hp1
others(7): Show 
HG02083.hp1
HG02523.hp1
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03486.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-11984_581-1198
others(6): Show 
c.581-11984_581-11983dupGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76182918
chr5:76182918 A
A
 AGTGT
AGTGT
 3 a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0006t0147g0195
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0006t0147g0195
 3 HG01496.hp1
HG02896.hp2
NA20905.hp1
HG01496.hp1
HG02896.hp2
NA20905.hp1
 intron_variant MODIFIER c.581-11986_581-1198
others(8): Show 
c.581-11986_581-11983dupGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76182918
chr5:76182918 AGT
AGT
 A
A
 2 a0001c0001t0001g0059
a0001c0001t0053g0045
a0001c0001t0001g0059
a0001c0001t0053g0045
 2 HG02602.hp1
HG03704.hp1
HG02602.hp1
HG03704.hp1
 intron_variant MODIFIER c.581-11984_581-1198
others(6): Show 
c.581-11984_581-11983delGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76182918
chr5:76182920 T
T
 A
A
 32 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(29): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0003g0171
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0090g0106
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0109g0209
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0006t0095g0091
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0091g0107
 32 HG00423.hp1
HG00735.hp1
HG01361.hp2
others(29): Show 
HG00423.hp1
HG00735.hp1
HG01361.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02809.hp1
HG03195.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18955.hp2
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19060.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA21309.hp1
 intron_variant MODIFIER c.581-11999T>A
c.581-11999T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182920
chr5:76182922 T
T
 A
A
 2 a0001c0001t0001g0059
a0001c0001t0053g0045
a0001c0001t0001g0059
a0001c0001t0053g0045
 2 HG02602.hp1
HG03704.hp1
HG02602.hp1
HG03704.hp1
 intron_variant MODIFIER c.581-11997T>A
c.581-11997T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182922
chr5:76182937 A
A
 G
G
 11 a0001c0001t0013g0085
a0001c0001t0046g0050
a0001c0001t0065g0233
others(8): Show 
a0001c0001t0013g0085
a0001c0001t0046g0050
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0088g0123
a0001c0002t0102g0234
a0002c0003t0013g0226
a0002c0003t0080g0084
a0002c0003t0119g0187
a0002c0006t0147g0195
a0003c0004t0066g0086
 11 HG01496.hp1
HG02258.hp1
HG02451.hp2
others(8): Show 
HG01496.hp1
HG02258.hp1
HG02451.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02976.hp1
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-11982A>G
c.581-11982A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182937
chr5:76182939 G
G
 A
A
 4 a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0013g0226
others(1): Show 
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0013g0226
a0002c0003t0119g0187
 4 HG02258.hp1
HG02451.hp2
HG02896.hp1
others(1): Show 
HG02258.hp1
HG02451.hp2
HG02896.hp1
HG02976.hp1
 intron_variant MODIFIER c.581-11980G>A
c.581-11980G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182939
chr5:76182942 A
A
 T
T
 4 a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0013g0226
others(1): Show 
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0013g0226
a0002c0003t0119g0187
 4 HG02258.hp1
HG02451.hp2
HG02896.hp1
others(1): Show 
HG02258.hp1
HG02451.hp2
HG02896.hp1
HG02976.hp1
 intron_variant MODIFIER c.581-11977A>T
c.581-11977A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182942
chr5:76182949 G
G
 A
A
 4 a0001c0001t0040g0070
a0001c0001t0042g0072
a0002c0003t0044g0074
others(1): Show 
a0001c0001t0040g0070
a0001c0001t0042g0072
a0002c0003t0044g0074
a0003c0004t0057g0071
 4 HG01884.hp1
HG02630.hp1
HG03195.hp1
others(1): Show 
HG01884.hp1
HG02630.hp1
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.581-11970G>A
c.581-11970G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182949
chr5:76182953 GAGAGAC
GAGAGAC
 G
G
 195 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(192): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 195 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(192): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-11960_581-1195
others(10): Show 
c.581-11960_581-11955delCAGAGA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76182953
chr5:76182959 CAGAG
CAGAG
 C
C
 4 a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0013g0226
others(1): Show 
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0013g0226
a0002c0003t0119g0187
 4 HG02258.hp1
HG02451.hp2
HG02896.hp1
others(1): Show 
HG02258.hp1
HG02451.hp2
HG02896.hp1
HG02976.hp1
 intron_variant MODIFIER c.581-11945_581-1194
others(8): Show 
c.581-11945_581-11942delAGAG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76182959
chr5:76182963 G
G
 A
A
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-11956G>A
c.581-11956G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182963
chr5:76182963 G
G
 C
C
 195 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(192): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 195 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(192): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-11956G>C
c.581-11956G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76182963
chr5:76183030 A
A
 ATC
ATC
 94 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(91): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0005g0162
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0011g0040
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0121g0097
a0001c0001t0125g0007
a0001c0001t0131g0181
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0007g0078
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0139g0016
a0004c0010t0027g0110
a0004c0010t0027g0111
 94 HG00423.hp1
HG00642.hp2
HG00733.hp1
others(91): Show 
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03704.hp1
HG03704.hp2
HG04199.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp2
NA18955.hp2
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19079.hp2
NA19083.hp1
NA19084.hp2
NA19088.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.581-11888_581-1188
others(6): Show 
c.581-11888_581-11887insCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76183030
chr5:76183030 A
A
 ATCT
ATCT
 17 a0001c0001t0003g0185
a0001c0001t0004g0229
a0001c0001t0005g0100
others(14): Show 
a0001c0001t0003g0185
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0012g0083
a0001c0001t0052g0055
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0002t0036g0014
a0001c0002t0102g0234
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0002c0003t0021g0103
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0091g0107
a0005c0011t0143g0015
 17 HG00735.hp1
HG01496.hp1
HG01943.hp2
others(14): Show 
HG00735.hp1
HG01496.hp1
HG01943.hp2
HG02280.hp2
HG02486.hp1
HG02615.hp2
HG02717.hp2
HG03139.hp1
HG04184.hp1
NA18951.hp1
NA19001.hp1
NA19005.hp2
NA19030.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.581-11888_581-1188
others(7): Show 
c.581-11888_581-11887insCTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76183030
chr5:76183030 AT
AT
 A
A
 86 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(83): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0024g0201
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0051g0035
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0076g0213
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0058g0051
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 86 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(83): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01943.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG03041.hp1
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19011.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-11866delT
c.581-11866delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76183030
chr5:76183031 T
T
 TC
TC
 14 a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0047g0046
others(11): Show 
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0002t0111g0133
a0001c0002t0149g0019
a0001c0015t0079g0087
a0002c0003t0017g0030
a0003c0004t0005g0161
a0003c0004t0045g0048
 14 HG00735.hp2
HG01256.hp2
HG02145.hp1
others(11): Show 
HG00735.hp2
HG01256.hp2
HG02145.hp1
HG02451.hp2
HG02486.hp2
HG02886.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp1
HG03540.hp2
NA18960.hp1
NA19240.hp1
 intron_variant MODIFIER c.581-11888_581-1188
others(5): Show 
c.581-11888_581-11887insC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76183031
chr5:76183032 T
T
 C
C
 4 a0001c0001t0050g0041
a0001c0001t0082g0220
a0001c0001t0126g0172
others(1): Show 
a0001c0001t0050g0041
a0001c0001t0082g0220
a0001c0001t0126g0172
a0003c0005t0030g0118
 4 HG02015.hp1
HG02738.hp1
HG02818.hp1
others(1): Show 
HG02015.hp1
HG02738.hp1
HG02818.hp1
HG02818.hp2
 intron_variant MODIFIER c.581-11887T>C
c.581-11887T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76183032
chr5:76183033 T
T
 C
C
 76 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(73): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0132g0009
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 76 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(73): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01943.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG03041.hp1
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-11886T>C
c.581-11886T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76183033
chr5:76183061 A
A
 C
C
 1 a0002c0006t0034g0168
a0002c0006t0034g0168
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.581-11858A>C
c.581-11858A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76183061
chr5:76183205 C
C
 A
A
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-11714C>A
c.581-11714C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76183205
chr5:76183237 C
C
 T
T
 1 a0001c0001t0073g0089
a0001c0001t0073g0089
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.581-11682C>T
c.581-11682C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76183237
chr5:76183250 C
C
 G
G
 3 a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
a0001c0001t0046g0050
a0001c0001t0088g0123
a0002c0003t0119g0187
 3 HG02258.hp1
HG02451.hp2
HG02976.hp1
HG02258.hp1
HG02451.hp2
HG02976.hp1
 intron_variant MODIFIER c.581-11669C>G
c.581-11669C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76183250
chr5:76183303 G
G
 T
T
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-11616G>T
c.581-11616G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76183303
chr5:76183324 T
T
 C
C
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-11595T>C
c.581-11595T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76183324
chr5:76183423 T
T
 A
A
 3 a0001c0002t0036g0014
a0003c0004t0009g0017
a0005c0011t0143g0015
a0001c0002t0036g0014
a0003c0004t0009g0017
a0005c0011t0143g0015
 3 HG02280.hp2
HG02717.hp2
NA20129.hp2
HG02280.hp2
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.581-11496T>A
c.581-11496T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76183423
chr5:76183425 C
C
 A
A
 3 a0001c0002t0036g0014
a0003c0004t0009g0017
a0005c0011t0143g0015
a0001c0002t0036g0014
a0003c0004t0009g0017
a0005c0011t0143g0015
 3 HG02280.hp2
HG02717.hp2
NA20129.hp2
HG02280.hp2
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.581-11494C>A
c.581-11494C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76183425
chr5:76183735 G
G
 A
A
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-11184G>A
c.581-11184G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76183735
chr5:76183837 C
C
 A
A
 1 a0001c0002t0144g0155
a0001c0002t0144g0155
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.581-11082C>A
c.581-11082C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76183837
chr5:76183961 G
G
 A
A
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-10958G>A
c.581-10958G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76183961
chr5:76184405 A
A
 G
G
 203 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(200): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 203 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(200): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-10514A>G
c.581-10514A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76184405
chr5:76184488 A
A
 C
C
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-10431A>C
c.581-10431A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76184488
chr5:76184489 C
C
 G
G
 199 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(196): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 199 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(196): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-10430C>G
c.581-10430C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76184489
chr5:76184579 A
A
 G
G
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-10340A>G
c.581-10340A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76184579
chr5:76184678 G
G
 C
C
 212 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(209): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 212 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(209): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-10241G>C
c.581-10241G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76184678
chr5:76184728 T
T
 C
C
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-10191T>C
c.581-10191T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76184728
chr5:76184729 G
G
 T
T
 1 a0001c0001t0008g0104
a0001c0001t0008g0104
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.581-10190G>T
c.581-10190G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76184729
chr5:76184733 G
G
 C
C
 1 a0001c0001t0054g0063
a0001c0001t0054g0063
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.581-10186G>C
c.581-10186G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76184733
chr5:76184750 G
G
 A
A
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-10169G>A
c.581-10169G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76184750
chr5:76184759 A
A
 G
G
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-10160A>G
c.581-10160A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76184759
chr5:76184811 T
T
 A
A
 2 a0001c0002t0105g0117
a0001c0002t0111g0133
a0001c0002t0105g0117
a0001c0002t0111g0133
 2 HG01109.hp2
HG01256.hp2
HG01109.hp2
HG01256.hp2
 intron_variant MODIFIER c.581-10108T>A
c.581-10108T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76184811
chr5:76184811 T
T
 G
G
 204 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(201): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 204 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(201): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-10108T>G
c.581-10108T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76184811
chr5:76184946 C
C
 A
A
 1 a0001c0001t0051g0035
a0001c0001t0051g0035
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.581-9973C>A
c.581-9973C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76184946
chr5:76184958 T
T
 C
C
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-9961T>C
c.581-9961T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76184958
chr5:76185020 A
A
 C
C
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-9899A>C
c.581-9899A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76185020
chr5:76185101 A
A
 T
T
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.581-9818A>T
c.581-9818A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76185101
chr5:76185124 A
A
 T
T
 199 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(196): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 199 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(196): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-9795A>T
c.581-9795A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76185124
chr5:76185136 G
G
 T
T
 199 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(196): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 199 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(196): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-9783G>T
c.581-9783G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76185136
chr5:76185305 A
A
 G
G
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-9614A>G
c.581-9614A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76185305
chr5:76185556 G
G
 A
A
 1 a0002c0006t0063g0053
a0002c0006t0063g0053
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.581-9363G>A
c.581-9363G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76185556
chr5:76185571 T
T
 A
A
 88 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
others(85): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0022g0108
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 88 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(85): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04204.hp2
HG04228.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp2
NA19081.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-9348T>A
c.581-9348T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76185571
chr5:76185653 T
T
 C
C
 1 a0001c0001t0088g0123
a0001c0001t0088g0123
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.581-9266T>C
c.581-9266T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76185653
chr5:76185702 G
G
 A
A
 138 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0096
others(135): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0127
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 138 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(135): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp2
NA18990.hp2
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-9217G>A
c.581-9217G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76185702
chr5:76185748 A
A
 G
G
 5 a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0128g0006
others(2): Show 
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0128g0006
a0001c0001t0130g0010
a0003c0004t0045g0048
 5 HG00735.hp2
HG02145.hp1
HG02970.hp1
others(2): Show 
HG00735.hp2
HG02145.hp1
HG02970.hp1
HG03098.hp2
NA19240.hp1
 intron_variant MODIFIER c.581-9171A>G
c.581-9171A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76185748
chr5:76185791 C
C
 G
G
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-9128C>G
c.581-9128C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76185791
chr5:76185799 C
C
 T
T
 199 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(196): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 199 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(196): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-9120C>T
c.581-9120C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76185799
chr5:76185960 A
A
 G
G
 9 a0001c0001t0002g0094
a0001c0001t0004g0229
a0001c0001t0046g0050
others(6): Show 
a0001c0001t0002g0094
a0001c0001t0004g0229
a0001c0001t0046g0050
a0001c0001t0088g0123
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0119g0187
 9 HG02258.hp1
HG02451.hp2
HG02486.hp1
others(6): Show 
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.581-8959A>G
c.581-8959A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76185960
chr5:76186053 C
C
 T
T
 3 a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 3 HG00733.hp1
HG02572.hp2
NA21309.hp2
HG00733.hp1
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.581-8866C>T
c.581-8866C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76186053
chr5:76186186 A
A
 C
C
 2 a0001c0001t0121g0097
a0001c0013t0014g0119
a0001c0001t0121g0097
a0001c0013t0014g0119
 2 NA18998.hp2
NA19083.hp1
NA18998.hp2
NA19083.hp1
 intron_variant MODIFIER c.581-8733A>C
c.581-8733A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76186186
chr5:76186254 G
G
 A
A
 8 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0083
others(5): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0007t0007g0078
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 8 HG00642.hp2
HG02451.hp1
HG02559.hp1
others(5): Show 
HG00642.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02647.hp1
HG02922.hp2
HG03225.hp2
 intron_variant MODIFIER c.581-8665G>A
c.581-8665G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76186254
chr5:76186275 C
C
 T
T
 10 a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
others(7): Show 
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0035g0178
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0150g0191
a0001c0002t0151g0151
a0003c0005t0116g0126
a0003c0005t0156g0193
 10 HG00140.hp1
HG00280.hp1
HG00738.hp1
others(7): Show 
HG00140.hp1
HG00280.hp1
HG00738.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01515.hp2
HG02145.hp2
HG02257.hp1
HG02738.hp2
 intron_variant MODIFIER c.581-8644C>T
c.581-8644C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76186275
chr5:76186283 G
G
 A
A
 199 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(196): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 199 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(196): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-8636G>A
c.581-8636G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76186283
chr5:76186295 T
T
 C
C
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-8624T>C
c.581-8624T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76186295
chr5:76186365 A
A
 G
G
 1 a0001c0001t0003g0167
a0001c0001t0003g0167
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.581-8554A>G
c.581-8554A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76186365
chr5:76186393 T
T
 C
C
 1 a0001c0002t0029g0146
a0001c0002t0029g0146
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.581-8526T>C
c.581-8526T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76186393
chr5:76186463 A
A
 G
G
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-8456A>G
c.581-8456A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76186463
chr5:76186490 G
G
 A
A
 1 a0001c0001t0135g0198
a0001c0001t0135g0198
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.581-8429G>A
c.581-8429G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76186490
chr5:76186606 T
T
 C
C
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-8313T>C
c.581-8313T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76186606
chr5:76186687 A
A
 G
G
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-8232A>G
c.581-8232A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76186687
chr5:76186690 T
T
 TCAAACAA
others(1): Show 
TCAAACAAA
 199 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(196): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 199 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(196): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-8220_581-8213d
others(10): Show 
c.581-8220_581-8213dupCAAACAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76186690
chr5:76186690 T
T
 TCAAACAA
others(5): Show 
TCAAACAAACAAA
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-8224_581-8213d
others(14): Show 
c.581-8224_581-8213dupCAAACAAACAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76186690
chr5:76186729 C
C
 G
G
 2 a0001c0002t0036g0176
a0001c0002t0146g0175
a0001c0002t0036g0176
a0001c0002t0146g0175
 2 HG00733.hp2
NA20805.hp1
HG00733.hp2
NA20805.hp1
 intron_variant MODIFIER c.581-8190C>G
c.581-8190C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76186729
chr5:76186795 A
A
 G
G
 1 a0001c0001t0005g0100
a0001c0001t0005g0100
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.581-8124A>G
c.581-8124A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76186795
chr5:76186796 G
G
 GGAGA
GGAGA
 206 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(203): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 206 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-8122_581-8119d
others(6): Show 
c.581-8122_581-8119dupGAGA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76186796
chr5:76187077 G
G
 A
A
 199 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(196): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 199 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(196): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-7842G>A
c.581-7842G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76187077
chr5:76187195 A
A
 G
G
 2 a0001c0001t0121g0097
a0001c0013t0014g0119
a0001c0001t0121g0097
a0001c0013t0014g0119
 2 NA18998.hp2
NA19083.hp1
NA18998.hp2
NA19083.hp1
 intron_variant MODIFIER c.581-7724A>G
c.581-7724A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76187195
chr5:76187226 T
T
 C
C
 1 a0001c0002t0114g0125
a0001c0002t0114g0125
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.581-7693T>C
c.581-7693T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76187226
chr5:76187319 C
C
 G
G
 13 a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
others(10): Show 
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0102g0234
a0001c0009t0076g0213
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
 13 HG01496.hp1
HG02083.hp1
HG02523.hp1
others(10): Show 
HG01496.hp1
HG02083.hp1
HG02523.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-7600C>G
c.581-7600C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76187319
chr5:76187447 T
T
 A
A
 1 a0003c0004t0066g0086
a0003c0004t0066g0086
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.581-7472T>A
c.581-7472T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76187447
chr5:76187750 CA
CA
 C
C
 192 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(189): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0004g0219
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0007g0078
a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 192 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(189): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-7154delA
c.581-7154delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76187750
chr5:76187750 CAA
CAA
 C
C
 16 a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0007g0093
others(13): Show 
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0002t0009g0186
a0001c0009t0076g0213
a0002c0003t0026g0230
a0003c0004t0012g0222
a0003c0004t0019g0145
a0003c0004t0058g0051
 16 HG01243.hp1
HG02083.hp1
HG02257.hp2
others(13): Show 
HG01243.hp1
HG02083.hp1
HG02257.hp2
HG02486.hp2
HG02523.hp1
HG02630.hp2
HG02965.hp1
HG03041.hp2
HG03486.hp2
NA18522.hp1
NA18955.hp2
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20300.hp1
 intron_variant MODIFIER c.581-7155_581-7154d
others(4): Show 
c.581-7155_581-7154delAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76187750
chr5:76187932 C
C
 T
T
 1 a0003c0004t0069g0022
a0003c0004t0069g0022
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.581-6987C>T
c.581-6987C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76187932
chr5:76188097 G
G
 A
A
 4 a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
others(1): Show 
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
 4 HG02723.hp1
HG02895.hp1
HG02922.hp1
others(1): Show 
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.581-6822G>A
c.581-6822G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76188097
chr5:76188216 A
A
 G
G
 2 a0001c0002t0102g0234
a0002c0006t0147g0195
a0001c0002t0102g0234
a0002c0006t0147g0195
 2 HG01496.hp1
NA20905.hp1
HG01496.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-6703A>G
c.581-6703A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76188216
chr5:76188318 A
A
 C
C
 1 a0003c0004t0045g0048
a0003c0004t0045g0048
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.581-6601A>C
c.581-6601A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76188318
chr5:76188456 G
G
 A
A
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-6463G>A
c.581-6463G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76188456
chr5:76188927 C
C
 A
A
 1 a0002c0003t0033g0169
a0002c0003t0033g0169
 1 NA18968.hp2
NA18968.hp2
 intron_variant MODIFIER c.581-5992C>A
c.581-5992C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76188927
chr5:76188981 G
G
 A
A
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-5938G>A
c.581-5938G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76188981
chr5:76188997 G
G
 A
A
 1 a0001c0001t0008g0104
a0001c0001t0008g0104
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.581-5922G>A
c.581-5922G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76188997
chr5:76189028 A
A
 G
G
 15 a0001c0001t0011g0040
a0001c0001t0047g0046
a0001c0001t0048g0047
others(12): Show 
a0001c0001t0011g0040
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0121g0097
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0135
a0001c0002t0029g0141
a0001c0002t0099g0132
a0001c0002t0111g0133
a0001c0013t0014g0119
a0003c0004t0045g0048
 15 HG00735.hp2
HG01168.hp2
HG01255.hp1
others(12): Show 
HG00735.hp2
HG01168.hp2
HG01255.hp1
HG01256.hp2
HG01261.hp2
HG02145.hp1
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp2
NA18998.hp2
NA19083.hp1
NA19240.hp1
 intron_variant MODIFIER c.581-5891A>G
c.581-5891A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76189028
chr5:76189206 G
G
 GA
GA
 13 a0001c0001t0017g0034
a0001c0001t0022g0214
a0001c0001t0077g0212
others(10): Show 
a0001c0001t0017g0034
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0009t0076g0213
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
 13 HG01496.hp1
HG02083.hp1
HG02523.hp1
others(10): Show 
HG01496.hp1
HG02083.hp1
HG02523.hp1
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03471.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.581-5703dupA
c.581-5703dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76189206
chr5:76189420 C
C
 T
T
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-5499C>T
c.581-5499C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76189420
chr5:76189448 A
A
 G
G
 1 a0001c0002t0015g0135
a0001c0002t0015g0135
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.581-5471A>G
c.581-5471A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76189448
chr5:76189458 G
G
 A
A
 1 a0001c0002t0114g0125
a0001c0002t0114g0125
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.581-5461G>A
c.581-5461G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76189458
chr5:76189472 A
A
 C
C
 1 a0002c0006t0061g0049
a0002c0006t0061g0049
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.581-5447A>C
c.581-5447A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76189472
chr5:76189535 G
G
 A
A
 2 a0001c0001t0046g0050
a0002c0003t0119g0187
a0001c0001t0046g0050
a0002c0003t0119g0187
 2 HG02258.hp1
HG02976.hp1
HG02258.hp1
HG02976.hp1
 intron_variant MODIFIER c.581-5384G>A
c.581-5384G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76189535
chr5:76189570 G
G
 A
A
 6 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0009t0076g0213
a0003c0004t0019g0145
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-5349G>A
c.581-5349G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76189570
chr5:76189580 A
A
 G
G
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.581-5339A>G
c.581-5339A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76189580
chr5:76189697 C
C
 T
T
 1 a0002c0003t0129g0188
a0002c0003t0129g0188
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.581-5222C>T
c.581-5222C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76189697
chr5:76189757 G
G
 A
A
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-5162G>A
c.581-5162G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76189757
chr5:76189834 C
C
 T
T
 8 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0083
others(5): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0007t0007g0078
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 8 HG00642.hp2
HG02451.hp1
HG02559.hp1
others(5): Show 
HG00642.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02647.hp1
HG02922.hp2
HG03225.hp2
 intron_variant MODIFIER c.581-5085C>T
c.581-5085C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76189834
chr5:76189971 T
T
 G
G
 1 a0001c0002t0015g0121
a0001c0002t0015g0121
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.581-4948T>G
c.581-4948T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76189971
chr5:76190008 A
A
 C
C
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.581-4911A>C
c.581-4911A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190008
chr5:76190030 A
A
 G
G
 13 a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
others(10): Show 
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0102g0234
a0001c0009t0076g0213
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
 13 HG01496.hp1
HG02083.hp1
HG02523.hp1
others(10): Show 
HG01496.hp1
HG02083.hp1
HG02523.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-4889A>G
c.581-4889A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190030
chr5:76190079 A
A
 G
G
 13 a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
others(10): Show 
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0102g0234
a0001c0009t0076g0213
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
 13 HG01496.hp1
HG02083.hp1
HG02523.hp1
others(10): Show 
HG01496.hp1
HG02083.hp1
HG02523.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA19007.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-4840A>G
c.581-4840A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190079
chr5:76190148 G
G
 C
C
 5 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(2): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0003c0004t0019g0145
a0003c0004t0058g0051
 5 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(2): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-4771G>C
c.581-4771G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190148
chr5:76190172 G
G
 C
C
 5 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(2): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0003c0004t0019g0145
a0003c0004t0058g0051
 5 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(2): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-4747G>C
c.581-4747G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190172
chr5:76190189 T
T
 C
C
 1 a0003c0004t0039g0062
a0003c0004t0039g0062
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.581-4730T>C
c.581-4730T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190189
chr5:76190315 A
A
 G
G
 2 a0004c0010t0027g0110
a0004c0010t0027g0111
a0004c0010t0027g0110
a0004c0010t0027g0111
 2 HG00741.hp2
HG01106.hp1
HG00741.hp2
HG01106.hp1
 intron_variant MODIFIER c.581-4604A>G
c.581-4604A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190315
chr5:76190465 T
T
 C
C
 5 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(2): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0003c0004t0019g0145
a0003c0004t0058g0051
 5 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(2): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-4454T>C
c.581-4454T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190465
chr5:76190511 A
A
 T
T
 5 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(2): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0003c0004t0019g0145
a0003c0004t0058g0051
 5 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(2): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-4408A>T
c.581-4408A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190511
chr5:76190588 T
T
 C
C
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0066g0086
 7 HG01496.hp1
HG02886.hp1
HG02895.hp2
others(4): Show 
HG01496.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-4331T>C
c.581-4331T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190588
chr5:76190589 G
G
 A
A
 2 a0001c0002t0102g0234
a0002c0006t0147g0195
a0001c0002t0102g0234
a0002c0006t0147g0195
 2 HG01496.hp1
NA20905.hp1
HG01496.hp1
NA20905.hp1
 intron_variant MODIFIER c.581-4330G>A
c.581-4330G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190589
chr5:76190749 T
T
 G
G
 6 a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0007t0004g0075
others(3): Show 
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
 6 HG02486.hp1
HG02486.hp2
HG03098.hp1
others(3): Show 
HG02486.hp1
HG02486.hp2
HG03098.hp1
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.581-4170T>G
c.581-4170T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190749
chr5:76190784 A
A
 G
G
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-4135A>G
c.581-4135A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190784
chr5:76190804 C
C
 T
T
 18 a0001c0001t0008g0217
a0001c0001t0013g0085
a0001c0001t0022g0214
others(15): Show 
a0001c0001t0008g0217
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0002t0036g0014
a0001c0002t0102g0234
a0002c0003t0080g0084
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0005c0011t0143g0015
 18 HG00733.hp1
HG01496.hp1
HG02083.hp1
others(15): Show 
HG00733.hp1
HG01496.hp1
HG02083.hp1
HG02280.hp2
HG02523.hp1
HG02572.hp2
HG02717.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
NA20129.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.581-4115C>T
c.581-4115C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190804
chr5:76190960 C
C
 T
T
 1 a0001c0001t0040g0070
a0001c0001t0040g0070
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.581-3959C>T
c.581-3959C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190960
chr5:76190968 C
C
 T
T
 27 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(24): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0002t0036g0014
a0001c0002t0102g0234
a0001c0007t0007g0078
a0002c0003t0080g0084
a0002c0006t0147g0195
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0005c0011t0143g0015
 27 HG00642.hp2
HG00733.hp1
HG01496.hp1
others(24): Show 
HG00642.hp2
HG00733.hp1
HG01496.hp1
HG02083.hp1
HG02280.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp1
HG02717.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
NA20129.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.581-3951C>T
c.581-3951C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76190968
chr5:76191045 G
G
 T
T
 1 a0001c0002t0154g0197
a0001c0002t0154g0197
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.581-3874G>T
c.581-3874G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191045
chr5:76191056 T
T
 C
C
 60 a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
others(57): Show 
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0070g0227
a0001c0001t0083g0204
a0001c0001t0121g0097
a0001c0001t0131g0181
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0020g0042
a0001c0002t0089g0081
a0001c0002t0098g0113
a0001c0002t0106g0210
a0001c0002t0108g0120
a0001c0002t0142g0001
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0095g0091
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0030g0137
 60 HG00558.hp1
HG01109.hp1
HG01243.hp1
others(57): Show 
HG00558.hp1
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01433.hp1
HG01891.hp1
HG01928.hp2
HG01943.hp2
HG02056.hp1
HG02056.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02602.hp2
HG02615.hp1
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18960.hp1
NA18981.hp2
NA18990.hp2
NA18998.hp2
NA19001.hp1
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19072.hp2
NA19079.hp2
NA19083.hp1
NA19083.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-3863T>C
c.581-3863T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191056
chr5:76191066 G
G
 T
T
 44 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(41): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0003g0165
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0090g0106
a0001c0001t0123g0002
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0097g0114
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0006t0061g0049
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0140g0163
 44 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(41): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG01361.hp2
HG01496.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02080.hp1
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02735.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04204.hp2
HG04228.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.581-3853G>T
c.581-3853G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191066
chr5:76191084 G
G
 A
A
 45 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(42): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0003g0165
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0090g0106
a0001c0001t0123g0002
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0097g0114
a0001c0002t0114g0125
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0006t0061g0049
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0140g0163
 45 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(42): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG01361.hp2
HG01496.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02080.hp1
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02735.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04204.hp2
HG04228.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.581-3835G>A
c.581-3835G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191084
chr5:76191088 C
C
 T
T
 45 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(42): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0003g0165
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0090g0106
a0001c0001t0123g0002
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0097g0114
a0001c0002t0114g0125
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0006t0061g0049
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0140g0163
 45 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(42): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG00741.hp1
HG01361.hp2
HG01496.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02080.hp1
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02735.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04204.hp2
HG04228.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.581-3831C>T
c.581-3831C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191088
chr5:76191090 G
G
 A
A
 158 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0023
others(155): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 158 HG00140.hp2
HG00423.hp2
HG00558.hp1
others(155): Show 
HG00140.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp2
NA18981.hp2
NA18990.hp2
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19007.hp1
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-3829G>A
c.581-3829G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191090
chr5:76191094 A
A
 G
G
 124 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0024
others(121): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0047g0046
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0121g0097
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0108g0120
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 124 HG00140.hp2
HG00423.hp2
HG00558.hp1
others(121): Show 
HG00140.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG01074.hp1
HG01106.hp2
HG01168.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01891.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp2
NA18981.hp2
NA18990.hp2
NA18992.hp2
NA18998.hp2
NA19001.hp1
NA19007.hp1
NA19007.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19063.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-3825A>G
c.581-3825A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191094
chr5:76191140 G
G
 A
A
 6 a0001c0001t0004g0229
a0001c0001t0009g0008
a0001c0007t0004g0075
others(3): Show 
a0001c0001t0004g0229
a0001c0001t0009g0008
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
 6 HG02257.hp2
HG02486.hp1
HG03098.hp1
others(3): Show 
HG02257.hp2
HG02486.hp1
HG03098.hp1
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.581-3779G>A
c.581-3779G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191140
chr5:76191151 C
C
 T
T
 4 a0001c0001t0050g0041
a0001c0002t0103g0148
a0001c0002t0107g0207
others(1): Show 
a0001c0001t0050g0041
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
 4 HG01891.hp2
HG02818.hp2
HG02895.hp1
others(1): Show 
HG01891.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
 intron_variant MODIFIER c.581-3768C>T
c.581-3768C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191151
chr5:76191181 A
A
 G
G
 53 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0023
others(50): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0005g0100
a0001c0001t0007g0122
a0001c0001t0011g0040
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0083g0204
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0106g0210
a0001c0002t0108g0120
a0001c0002t0144g0155
a0001c0002t0149g0019
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0139g0016
 53 HG00558.hp1
HG00735.hp2
HG01243.hp1
others(50): Show 
HG00558.hp1
HG00735.hp2
HG01243.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01891.hp1
HG01928.hp2
HG01943.hp2
HG02056.hp1
HG02080.hp2
HG02109.hp1
HG02145.hp1
HG02486.hp2
HG02523.hp2
HG02602.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG04199.hp1
HG04204.hp2
NA18522.hp2
NA18906.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp1
NA18981.hp2
NA18990.hp2
NA18998.hp2
NA19001.hp1
NA19007.hp2
NA19030.hp1
NA19079.hp2
NA19083.hp1
NA19083.hp2
NA19091.hp2
NA19240.hp1
 intron_variant MODIFIER c.581-3738A>G
c.581-3738A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191181
chr5:76191184 G
G
 A
A
 53 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0023
others(50): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0005g0100
a0001c0001t0007g0122
a0001c0001t0011g0040
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0083g0204
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0106g0210
a0001c0002t0108g0120
a0001c0002t0144g0155
a0001c0002t0149g0019
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0139g0016
 53 HG00558.hp1
HG00735.hp2
HG01243.hp1
others(50): Show 
HG00558.hp1
HG00735.hp2
HG01243.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01891.hp1
HG01928.hp2
HG01943.hp2
HG02056.hp1
HG02080.hp2
HG02109.hp1
HG02145.hp1
HG02486.hp2
HG02523.hp2
HG02602.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG04199.hp1
HG04204.hp2
NA18522.hp2
NA18906.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp1
NA18981.hp2
NA18990.hp2
NA18998.hp2
NA19001.hp1
NA19007.hp2
NA19030.hp1
NA19079.hp2
NA19083.hp1
NA19083.hp2
NA19091.hp2
NA19240.hp1
 intron_variant MODIFIER c.581-3735G>A
c.581-3735G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191184
chr5:76191190 C
C
 CTACACAC
others(2659): Show 
CTACACACTTTTAAACAACCAGATCTCATGAGAACTCACTCACTATCACA
AGAACAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAG
GCCCCATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGG
GACACAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCA
TGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCA
AAGTTTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGA
GACAAGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTT
AGTTACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCACCA
TTCCAAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAA
GTCCAAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATC
TCCTTTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGG
CTCCAAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCC
TGCATAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGG
CACACAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATG
GTAGCCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTT
TGTGGGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGT
TCTCCATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCT
GCAGCAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAA
TCTAGGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAG
GCTTAACACCACATGGAAGCTGCCAAGGCTTACAGCTTGCACCCCCTGAA
GCAGCAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGC
AGATGGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCC
CTGGGCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAG
ACCTTTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGC
ATTTTTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATT
TTTGTAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAA
AGCATAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTT
TAAATATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACA
TAGGCGATATATATATATATGATGGAATACTACTCAGCCATAAAAAAGGA
ATGAATTAACAGCATTTGCAGTGACCTGGATGAGATTAGAGACTATTATT
CTAAGTGAAGTAACTCAGGAATGGAAAACCAAACATTGTTATGTTCTCAC
TGATATGTGGGAGCTAAGCGATGAGGACGCAAAGGTACAAGAATGATACA
ATGTCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAA
ATTAGCCAGGTGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC
TGAGGCAGGAGAATGGCGTGAACTGGGGAGGCAGAGCTTGCAGTGAGCCA
AAATCGCGCCACTGCACTCTAGCACTCTAGCCTGGGTGACAGAGCGAGAC
TCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAAGAAAACGAGAAAAAGA
ATGATACAATGGACTTTGGGGACTTGTGGGGAAGAGTGGGAGGGGGGCAA
GGGATAAAAGACTATAAATATGGTGCAGTTTATACTGCTCGGGTAATGGG
TGCGCCAAAATCTCACGAATCACCACTAAAGAGCTTACTCATGTAATCAA
AAACTACCTGTACCCCAATAACTTATGGAAAAATAAAAATTAAAAAAAAG
AAGCTGCCAGGCCACATCTTGAATGCTTTGCTGCTTAGAAATTACTTCCA
CCAGATATCCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCCCTA
GAGCAGAGGCACAATGCCACCAGTCTCTTTGCTAAAGCATAGCAAGAGTG
ACCCTTGCTCCATTTCCCAATAAGTTCCTCATTTCCATCTGAGACCTCCT
CAGCCTGGAATTCACTGTCCTTATTGAAATCAGAATTTTGGTCACAACCA
TTTTAAAAGCCTCTAGGAAGCTTCAAACTATCCCTCATCTTCCCATCTTC
TTCTGAGCCCTCCAAACTGTCGAATCTCTGCCCATTACCCAGTTCCAACA
CTGCTTCCCATTTTTTGGTGTCCTTATAGCAATGCCCCACTTCTTGGTAC
CAATTTTCTGTATTAGTCCATTCTCGCACTGCTATAAAGAAATGCCTGAG
AATGGGAAATTTATAAAGAAAAGAGGTTTAATTGGCTCATAGTTCTTCAG
GCTGTACAGGAAGCATGGTTGGGGAGGCCTCAGGAAACTTACAATCATGG
TGGAAGGCAAAGAAGAAGCAAGCATGTCTTATATGTCTGGAACACAAGGA
AGAGAAGGGGAAGGTGT
 3 a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 3 HG00733.hp1
HG02572.hp2
NA21309.hp2
HG00733.hp1
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.581-3704_581-3703i
others(2668): Show 
c.581-3704_581-3703insCATGAGAACTCACTCACTATCACAAGAA
CAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAGGCCC
CATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGGGACA
CAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCATGTC
CTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCAAAGT
TTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGAGACA
AGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTTAGTT
ACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCACCATTCC
AAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAAGTCC
AAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATCTCCT
TTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGGCTCC
AAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCCTGCA
TAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGGCACA
CAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATGGTAG
CCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTTTGTG
GGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGTTCTC
CATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCTGCAG
CAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAATCTA
GGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAGGCTT
AACACCACATGGAAGCTGCCAAGGCTTACAGCTTGCACCCCCTGAAGCAG
CAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGCAGAT
GGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCCCTGG
GCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAGACCT
TTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGCATTT
TTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATTTTTG
TAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAAAGCA
TAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTTTAAA
TATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACATAGG
CGATATATATATATATGATGGAATACTACTCAGCCATAAAAAAGGAATGA
ATTAACAGCATTTGCAGTGACCTGGATGAGATTAGAGACTATTATTCTAA
GTGAAGTAACTCAGGAATGGAAAACCAAACATTGTTATGTTCTCACTGAT
ATGTGGGAGCTAAGCGATGAGGACGCAAAGGTACAAGAATGATACAATGT
CCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTA
GCCAGGTGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG
GCAGGAGAATGGCGTGAACTGGGGAGGCAGAGCTTGCAGTGAGCCAAAAT
CGCGCCACTGCACTCTAGCACTCTAGCCTGGGTGACAGAGCGAGACTCTG
TCTCAAAAAAAAAAAAAGAAAAAAGAAAAAGAAAACGAGAAAAAGAATGA
TACAATGGACTTTGGGGACTTGTGGGGAAGAGTGGGAGGGGGGCAAGGGA
TAAAAGACTATAAATATGGTGCAGTTTATACTGCTCGGGTAATGGGTGCG
CCAAAATCTCACGAATCACCACTAAAGAGCTTACTCATGTAATCAAAAAC
TACCTGTACCCCAATAACTTATGGAAAAATAAAAATTAAAAAAAAGAAGC
TGCCAGGCCACATCTTGAATGCTTTGCTGCTTAGAAATTACTTCCACCAG
ATATCCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCCCTAGAGC
AGAGGCACAATGCCACCAGTCTCTTTGCTAAAGCATAGCAAGAGTGACCC
TTGCTCCATTTCCCAATAAGTTCCTCATTTCCATCTGAGACCTCCTCAGC
CTGGAATTCACTGTCCTTATTGAAATCAGAATTTTGGTCACAACCATTTT
AAAAGCCTCTAGGAAGCTTCAAACTATCCCTCATCTTCCCATCTTCTTCT
GAGCCCTCCAAACTGTCGAATCTCTGCCCATTACCCAGTTCCAACACTGC
TTCCCATTTTTTGGTGTCCTTATAGCAATGCCCCACTTCTTGGTACCAAT
TTTCTGTATTAGTCCATTCTCGCACTGCTATAAAGAAATGCCTGAGAATG
GGAAATTTATAAAGAAAAGAGGTTTAATTGGCTCATAGTTCTTCAGGCTG
TACAGGAAGCATGGTTGGGGAGGCCTCAGGAAACTTACAATCATGGTGGA
AGGCAAAGAAGAAGCAAGCATGTCTTATATGTCTGGAACACAAGGAAGAG
AAGGGGAAGGTGTTACACACTTTTAAACAACCAGATCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76191190
chr5:76191190 C
C
 CTACACAC
others(2719): Show 
CTACACACTTTTAAACAACCAGATCTCATGAGAACTCACTCACTATCACA
AGAACAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAG
GCCCCATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGG
GACACAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCA
TGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCA
AAGTTTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGA
GACAAGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTT
AGTTACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCA
TTCCAAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAA
GTCCAAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATC
TCCTTTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGG
CTCCAAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCC
TGCATAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGG
CACACAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATG
GTAGCCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTT
TGTGGGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGT
TCTCCATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCT
GCAGCAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAA
TCTAGGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAG
GCTTAACACCACATGGAAGCTGCCAAGGCATACAGCTTGCACCCCCTGAA
GCAGCAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGC
AGATGGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCC
CTGGGCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAG
ACCTTTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGC
ATTTTTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATT
TTTGTAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAA
AGCATAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTT
TAAATATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACA
TAGGCGATATATATATATATATATATATATATATATATATATATATATAT
ATATATATATATATATATATATATATGATGGAATACTACTCAGCCATAAA
AAAGGAATGAATTAACAGCATTTGCAGTGACCTGGATGAGATTAGAGACT
ATTATTCTAAGTGAAGTAACTCAGGAATGGAAAACCAAACATTGTTATGT
TCTCACTGATATGTGGGAGCTAAGCGATGAGGACGCAAAGGTACAAGAAT
GATACAATGTCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAAATA
CAAAAAATTAGCCAGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCG
GGAGGCTGAGGCAGGAGAATGGCGTGAACTGGGGAGGCAGAGCTTGCAGT
GAGCCAAAATTGCGCCACTGCACTCTAGCACTCTAGCCTGGGTGACAGAG
CGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAAGAAAACGAGA
AAAAGAATGATACAATGGACTTTGGGGACTTGTGGGGAAGAGTGGGAGGG
GGGCAAGGGATAAAAGACTATAAATATGGTGCAGTTTATACTGCTCGGGT
AATGGGTGCGCCAAAATCTCACGAATCACCACTAAAGAGCTTACTCATGT
AATCAAAAACCACCTGTACCCCAATAACTTATGGAAAAATAAAAATTAAA
AAAAAGAAGCTGCCAGGCCACATCTTGAATGCTTTGCTGCTTAGAAATTA
CTTCCACCAGATATCCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGA
TCCCTAGAGCAGAGGCACAATGCCACCAGTCTCTTTGCTAAAGCATAGCA
AGAGTGACCCTTGCTCCATTTCCCAATAAGTTCCTCATTTCCATCTGAGA
CCTCCTCAGCCTGGAATTCACTGTCCTTATTGAAATCAGAATTTTGGTCA
CAACCATTTTAAAAGCCTCTAGGAAGCTTCAAACTATCCCTCATCTTCCC
ATCTTCTTCTGAGCCCTCCAAACTGTCGAATCTCTGCCCATTACCCAGTT
CCAACACTGCTTCCCATTTTTTGGTGTCCTTATAGCAATGCCCCACTTCT
TGGTACCAATTTTCTGTATTAGTCCATTCTCGCACTGCTATAAAGAAATG
CCTGAGAATGGGAAATTTATAAAGAAAAGAGGTTTAATTGGCTCATAGTT
CTTCAGGCTGTACAGGAAGCATGGCTGGGGAGGCCTCAGGAAACTTACAA
TCATGGTGGAAGGCAAAGAAGAAGCAAGCATGTCTTATATGTCTGGAACA
CAAGGAAGAGAGAGAAGGGGAAGGTGT
 1 a0003c0004t0066g0086
a0003c0004t0066g0086
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.581-3704_581-3703i
others(2728): Show 
c.581-3704_581-3703insCATGAGAACTCACTCACTATCACAAGAA
CAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAGGCCC
CATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGGGACA
CAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCATGTC
CTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCAAAGT
TTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGAGACA
AGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTTAGTT
ACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCATTCC
AAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAAGTCC
AAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATCTCCT
TTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGGCTCC
AAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCCTGCA
TAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGGCACA
CAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATGGTAG
CCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTTTGTG
GGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGTTCTC
CATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCTGCAG
CAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAATCTA
GGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAGGCTT
AACACCACATGGAAGCTGCCAAGGCATACAGCTTGCACCCCCTGAAGCAG
CAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGCAGAT
GGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCCCTGG
GCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAGACCT
TTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGCATTT
TTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATTTTTG
TAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAAAGCA
TAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTTTAAA
TATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACATAGG
CGATATATATATATATATATATATATATATATATATATATATATATATAT
ATATATATATATATATATATATGATGGAATACTACTCAGCCATAAAAAAG
GAATGAATTAACAGCATTTGCAGTGACCTGGATGAGATTAGAGACTATTA
TTCTAAGTGAAGTAACTCAGGAATGGAAAACCAAACATTGTTATGTTCTC
ACTGATATGTGGGAGCTAAGCGATGAGGACGCAAAGGTACAAGAATGATA
CAATGTCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAA
AAATTAGCCAGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG
GCTGAGGCAGGAGAATGGCGTGAACTGGGGAGGCAGAGCTTGCAGTGAGC
CAAAATTGCGCCACTGCACTCTAGCACTCTAGCCTGGGTGACAGAGCGAG
ACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAAGAAAACGAGAAAAA
GAATGATACAATGGACTTTGGGGACTTGTGGGGAAGAGTGGGAGGGGGGC
AAGGGATAAAAGACTATAAATATGGTGCAGTTTATACTGCTCGGGTAATG
GGTGCGCCAAAATCTCACGAATCACCACTAAAGAGCTTACTCATGTAATC
AAAAACCACCTGTACCCCAATAACTTATGGAAAAATAAAAATTAAAAAAA
AGAAGCTGCCAGGCCACATCTTGAATGCTTTGCTGCTTAGAAATTACTTC
CACCAGATATCCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCCC
TAGAGCAGAGGCACAATGCCACCAGTCTCTTTGCTAAAGCATAGCAAGAG
TGACCCTTGCTCCATTTCCCAATAAGTTCCTCATTTCCATCTGAGACCTC
CTCAGCCTGGAATTCACTGTCCTTATTGAAATCAGAATTTTGGTCACAAC
CATTTTAAAAGCCTCTAGGAAGCTTCAAACTATCCCTCATCTTCCCATCT
TCTTCTGAGCCCTCCAAACTGTCGAATCTCTGCCCATTACCCAGTTCCAA
CACTGCTTCCCATTTTTTGGTGTCCTTATAGCAATGCCCCACTTCTTGGT
ACCAATTTTCTGTATTAGTCCATTCTCGCACTGCTATAAAGAAATGCCTG
AGAATGGGAAATTTATAAAGAAAAGAGGTTTAATTGGCTCATAGTTCTTC
AGGCTGTACAGGAAGCATGGCTGGGGAGGCCTCAGGAAACTTACAATCAT
GGTGGAAGGCAAAGAAGAAGCAAGCATGTCTTATATGTCTGGAACACAAG
GAAGAGAGAGAAGGGGAAGGTGTTACACACTTTTAAACAACCAGATCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76191190
chr5:76191190 C
C
 CTACACAC
others(2709): Show 
CTACACACTTTTAAACAACCAGATCTCATGAGAACTCACTCACTATCACA
AGAACAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAG
GCCCCATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGG
GACACAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCA
TGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCA
AAGTTTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGA
GACAAGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTT
AGTTACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCA
TTCCAAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAA
GTCCAAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATC
TCCTTTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGG
CTCCAAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCC
TGCATAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGG
CACACAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATG
GTAGCCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTT
TGTGGGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGT
TCTCCATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCT
GCAGCAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAA
TCTAGGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAG
GCTTAACACCACATGGAAGCTGCCAAGGCATACAGCTTGCACCCCCTGAA
GCAGCAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGC
AGATGGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCC
CTGGGCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAG
ACCTTTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGC
ATTTTTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATT
TTTGTAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAA
AGCATAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTT
TAAATATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACA
TAGGCGATATATATATATATATATATATATATATATATATATATATATAT
ATATATATATATATATGATGGAATACTACTCAGCCATAAAAAAGGAATGA
ATTAACAGCATTTGCAGTGACCTGGATGAGATTAGAGACTATTATTCTAA
GTGAAGTAACTCAGGAATGGAAAACCAAACATTGTTATGTTCTCACTGAT
ATGTGGGAGCTAAGCGATGAGGACGCAAAGGTACAAGAATGATACAATGT
CCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTA
GCCAGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG
GCAGGAGAATGGCGTGAACTGGGGAGGCAGAGCTTGCAGTGAGCCAAAAT
TGCGCCACTGCACTCTAGCACTCTAGCCTGGGTGACAGAGCGAGACTCTG
TCTCAAAAAAAAAAAAAGAAAAAAGAAAAAGAAAACGAGAAAAAGAATGA
TACAATGGACTTTGGGGACTTGTGGGGAAGAGTGGGAGGGGGGCAAGGGA
TAAAAGACTATAAATATGGTGCAGTTTATACTGCTCGGGTAATGGGTGCG
CCAAAATCTCACGAATCACCACTAAAGAGCTTACTCATGTAATCAAAAAC
CACCTGTACCCCAATAACTTATGGAAAAATAAAAATTAAAAAAAAGAAGC
TGCCAGGCCACATCTTGAATGCTTTGCTGCTTAGAAATTACTTCCACCAG
ATATCCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCCCTAGAGC
AGAGGCACAATGCCACCAGTCTCTTTGCTAAAGCATAGCAAGAGTGACCC
TTGCTCCATTTCCCAATAAGTTCCTCATTTCCATCTGAGACCTCCTCAGC
CTGGAATTCACTGTCCTTATTGAAATCAGAATTTTGGTCACAACCATTTT
AAAAGCCTCTAGGAAGCTTCAAACTATCCCTCATCTTCCCATCTTCTTCT
GAGCCCTCCAAACTGTCGAATCTCTGCCCATTACCCAGTTCCAACACTGC
TTCCCATTTTTTGGTGTCCTTATAGCAATGCCCCACTTCTTGGTACCAAT
TTTCTGTATTAGTCCATTCTCGCACTGCTATAAAGAAATGCCTGAGAATG
GGAAATTTATAAAGAAAAGAGGTTTAATTGGCTCATAGTTCTTCAGGCTG
TACAGGAAGCATGGCTGGGGAGGCCTCAGGAAACTTACAATCATGGTGGA
AGGCAAAGAAGAAGCAAGCATGTCTTATATGTCTGGAACACAAGGAAGAG
AGAGAAGGGGAAGGTGT
 1 a0001c0001t0065g0233
a0001c0001t0065g0233
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.581-3704_581-3703i
others(2718): Show 
c.581-3704_581-3703insCATGAGAACTCACTCACTATCACAAGAA
CAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAGGCCC
CATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGGGACA
CAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCATGTC
CTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCAAAGT
TTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGAGACA
AGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTTAGTT
ACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCATTCC
AAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAAGTCC
AAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATCTCCT
TTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGGCTCC
AAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCCTGCA
TAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGGCACA
CAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATGGTAG
CCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTTTGTG
GGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGTTCTC
CATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCTGCAG
CAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAATCTA
GGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAGGCTT
AACACCACATGGAAGCTGCCAAGGCATACAGCTTGCACCCCCTGAAGCAG
CAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGCAGAT
GGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCCCTGG
GCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAGACCT
TTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGCATTT
TTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATTTTTG
TAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAAAGCA
TAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTTTAAA
TATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACATAGG
CGATATATATATATATATATATATATATATATATATATATATATATATAT
ATATATATATATGATGGAATACTACTCAGCCATAAAAAAGGAATGAATTA
ACAGCATTTGCAGTGACCTGGATGAGATTAGAGACTATTATTCTAAGTGA
AGTAACTCAGGAATGGAAAACCAAACATTGTTATGTTCTCACTGATATGT
GGGAGCTAAGCGATGAGGACGCAAAGGTACAAGAATGATACAATGTCCTG
GCTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCA
GGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG
GAGAATGGCGTGAACTGGGGAGGCAGAGCTTGCAGTGAGCCAAAATTGCG
CCACTGCACTCTAGCACTCTAGCCTGGGTGACAGAGCGAGACTCTGTCTC
AAAAAAAAAAAAAGAAAAAAGAAAAAGAAAACGAGAAAAAGAATGATACA
ATGGACTTTGGGGACTTGTGGGGAAGAGTGGGAGGGGGGCAAGGGATAAA
AGACTATAAATATGGTGCAGTTTATACTGCTCGGGTAATGGGTGCGCCAA
AATCTCACGAATCACCACTAAAGAGCTTACTCATGTAATCAAAAACCACC
TGTACCCCAATAACTTATGGAAAAATAAAAATTAAAAAAAAGAAGCTGCC
AGGCCACATCTTGAATGCTTTGCTGCTTAGAAATTACTTCCACCAGATAT
CCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCCCTAGAGCAGAG
GCACAATGCCACCAGTCTCTTTGCTAAAGCATAGCAAGAGTGACCCTTGC
TCCATTTCCCAATAAGTTCCTCATTTCCATCTGAGACCTCCTCAGCCTGG
AATTCACTGTCCTTATTGAAATCAGAATTTTGGTCACAACCATTTTAAAA
GCCTCTAGGAAGCTTCAAACTATCCCTCATCTTCCCATCTTCTTCTGAGC
CCTCCAAACTGTCGAATCTCTGCCCATTACCCAGTTCCAACACTGCTTCC
CATTTTTTGGTGTCCTTATAGCAATGCCCCACTTCTTGGTACCAATTTTC
TGTATTAGTCCATTCTCGCACTGCTATAAAGAAATGCCTGAGAATGGGAA
ATTTATAAAGAAAAGAGGTTTAATTGGCTCATAGTTCTTCAGGCTGTACA
GGAAGCATGGCTGGGGAGGCCTCAGGAAACTTACAATCATGGTGGAAGGC
AAAGAAGAAGCAAGCATGTCTTATATGTCTGGAACACAAGGAAGAGAGAG
AAGGGGAAGGTGTTACACACTTTTAAACAACCAGATCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76191190
chr5:76191190 C
C
 CTACACAC
others(2707): Show 
CTACACACTTTTAAACAACCAGATCTCATGAGAACTCACTCACTATCACA
AGAACAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAG
GCCCCATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGG
GACACAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCA
TGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCA
AAGTTTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGA
GACAAGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTT
AGTTACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCA
TTCCAAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAA
GTCCAAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATC
TCCTTTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGG
CTCCAAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCC
TGCATAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGG
CACACAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATG
GTAGCCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTT
TGTGGGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGT
TCTCCATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCT
GCAGCAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAA
TCTAGGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAG
GCTTAACACCACATGGAAGCTGCCAAGGCATACAGCTTGCACCCCCTGAA
GCAGCAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGC
AGATGGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCC
CTGGGCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAG
ACCTTTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGC
ATTTTTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATT
TTTGTAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAA
AGCATAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTT
TAAATATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACA
TAGGCGATATATATATATATATATATATATATATATATATATATATATAT
ATATATATATATATGATGGAATACTACTCAGCCATAAAAAAGGAATGAAT
TAACAGCATTTGCAGTGACCTGGATGAGATTAGAGACTATTATTCTAAGT
GAAGTAACTCAGGAATGGAAAACCAAACATTGTTATGTTCTCACTGATAT
GTGGGAGCTAAGCGATGAGGACGCAAAGGTACAAGAATGATACAATGTCC
TGGCTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGC
CAGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC
AGGAGAATGGCGTGAACTGGGGAGGCAGAGCTTGCAGTGAGCCAAAATTG
CGCCACTGCACTCTAGCACTCTAGCCTGGGTGACAGAGCGAGACTCTGTC
TCAAAAAAAAAAAAAGAAAAAAGAAAAAGAAAACGAGAAAAAGAATGATA
CAATGGACTTTGGGGACTTGTGGGGAAGAGTGGGAGGGGGGCAAGGGATA
AAAGACTATAAATATGGTGCAGTTTATACTGCTCGGGTAATGGGTGCGCC
AAAATCTCACGAATCACCACTAAAGAGCTTACTCATGTAATCAAAAACCA
CCTGTACCCCAATAACTTATGGAAAAATAAAAATTAAAAAAAAGAAGCTG
CCAGGCCACATCTTGAATGCTTTGCTGCTTAGAAATTACTTCCACCAGAT
ATCCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCCCTAGAGCAG
AGGCACAATGCCACCAGTCTCTTTGCTAAAGCATAGCAAGAGTGACCCTT
GCTCCATTTCCCAATAAGTTCCTCATTTCCATCTGAGACCTCCTCAGCCT
GGAATTCACTGTCCTTATTGAAATCAGAATTTTGGTCACAACCATTTTAA
AAGCCTCTAGGAAGCTTCAAACTATCCCTCATCTTCCCATCTTCTTCTGA
GCCCTCCAAACTGTCGAATCTCTGCCCATTACCCAGTTCCAACACTGCTT
CCCATTTTTTGGTGTCCTTATAGCAATGCCCCACTTCTTGGTACCAATTT
TCTGTATTAGTCCATTCTCGCACTGCTATAAAGAAATGCCTGAGAATGGG
AAATTTATAAAGAAAAGAGGTTTAATTGGCTCATAGTTCTTCAGGCTGTA
CAGGAAGCATGGCTGGGGAGGCCTCAGGAAACTTACAATCATGGTGGAAG
GCAAAGAAGAAGCAAGCATGTCTTATATGTCTGGAACACAAGGAAGAGAG
AGAAGGGGAAGGTGT
 2 a0001c0001t0013g0085
a0001c0001t0068g0092
a0001c0001t0013g0085
a0001c0001t0068g0092
 2 HG02886.hp1
HG02896.hp2
HG02886.hp1
HG02896.hp2
 intron_variant MODIFIER c.581-3704_581-3703i
others(2716): Show 
c.581-3704_581-3703insCATGAGAACTCACTCACTATCACAAGAA
CAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAGGCCC
CATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGGGACA
CAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCATGTC
CTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCAAAGT
TTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGAGACA
AGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTTAGTT
ACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCATTCC
AAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAAGTCC
AAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATCTCCT
TTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGGCTCC
AAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCCTGCA
TAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGGCACA
CAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATGGTAG
CCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTTTGTG
GGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGTTCTC
CATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCTGCAG
CAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAATCTA
GGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAGGCTT
AACACCACATGGAAGCTGCCAAGGCATACAGCTTGCACCCCCTGAAGCAG
CAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGCAGAT
GGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCCCTGG
GCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAGACCT
TTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGCATTT
TTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATTTTTG
TAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAAAGCA
TAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTTTAAA
TATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACATAGG
CGATATATATATATATATATATATATATATATATATATATATATATATAT
ATATATATATGATGGAATACTACTCAGCCATAAAAAAGGAATGAATTAAC
AGCATTTGCAGTGACCTGGATGAGATTAGAGACTATTATTCTAAGTGAAG
TAACTCAGGAATGGAAAACCAAACATTGTTATGTTCTCACTGATATGTGG
GAGCTAAGCGATGAGGACGCAAAGGTACAAGAATGATACAATGTCCTGGC
TAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGG
TGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA
GAATGGCGTGAACTGGGGAGGCAGAGCTTGCAGTGAGCCAAAATTGCGCC
ACTGCACTCTAGCACTCTAGCCTGGGTGACAGAGCGAGACTCTGTCTCAA
AAAAAAAAAAAGAAAAAAGAAAAAGAAAACGAGAAAAAGAATGATACAAT
GGACTTTGGGGACTTGTGGGGAAGAGTGGGAGGGGGGCAAGGGATAAAAG
ACTATAAATATGGTGCAGTTTATACTGCTCGGGTAATGGGTGCGCCAAAA
TCTCACGAATCACCACTAAAGAGCTTACTCATGTAATCAAAAACCACCTG
TACCCCAATAACTTATGGAAAAATAAAAATTAAAAAAAAGAAGCTGCCAG
GCCACATCTTGAATGCTTTGCTGCTTAGAAATTACTTCCACCAGATATCC
TAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCCCTAGAGCAGAGGC
ACAATGCCACCAGTCTCTTTGCTAAAGCATAGCAAGAGTGACCCTTGCTC
CATTTCCCAATAAGTTCCTCATTTCCATCTGAGACCTCCTCAGCCTGGAA
TTCACTGTCCTTATTGAAATCAGAATTTTGGTCACAACCATTTTAAAAGC
CTCTAGGAAGCTTCAAACTATCCCTCATCTTCCCATCTTCTTCTGAGCCC
TCCAAACTGTCGAATCTCTGCCCATTACCCAGTTCCAACACTGCTTCCCA
TTTTTTGGTGTCCTTATAGCAATGCCCCACTTCTTGGTACCAATTTTCTG
TATTAGTCCATTCTCGCACTGCTATAAAGAAATGCCTGAGAATGGGAAAT
TTATAAAGAAAAGAGGTTTAATTGGCTCATAGTTCTTCAGGCTGTACAGG
AAGCATGGCTGGGGAGGCCTCAGGAAACTTACAATCATGGTGGAAGGCAA
AGAAGAAGCAAGCATGTCTTATATGTCTGGAACACAAGGAAGAGAGAGAA
GGGGAAGGTGTTACACACTTTTAAACAACCAGATCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76191190
chr5:76191190 C
C
 CTACACAC
others(2705): Show 
CTACACACTTTTAAACAACCAGATCTCATGAGAACTCACTCACTATCACA
AGAACAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAG
GCCCCATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGG
GACACAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCA
TGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCA
AAGTTTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGA
GACAAGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTT
AGTTACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCA
TTCCAAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAA
GTCCAAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATC
TCCTTTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGG
CTCCAAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCC
TGCATAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGG
CACACAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATG
GTAGCCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTT
TGTGGGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGT
TCTCCATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCT
GCAGCAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAA
TCTAGGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAG
GCTTAACACCACATGGAAGCTGCCAAGGCATACAGCTTGCACCCCCTGAA
GCAGCAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGC
AGATGGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCC
CTGGGCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAG
ACCTTTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGC
ATTTTTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATT
TTTGTAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAA
AGCATAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTT
TAAATATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACA
TAGGCGATATATATATATATATATATATATATATATATATATATATATAT
ATATATATATATGATGGAATACTACTCAGCCATAAAAAAGGAATGAATTA
ACAGCATTTGCAGTGACCTGGATGAGATTAGAGACTATTATTCTAAGTGA
AGTAACTCAGGAATGGAAAACCAAACATTGTTATGTTCTCACTGATATGT
GGGAGCTAAGCGATGAGGACGCAAAGGTACAAGAATGATACAATGTCCTG
GCTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCA
GGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG
GAGAATGGCGTGAACTGGGGAGGCAGAGCTTGCAGTGAGCCAAAATTGCG
CCACTGCACTCTAGCACTCTAGCCTGGGTGACAGAGCGAGACTCTGTCTC
AAAAAAAAAAAAAGAAAAAAGAAAAAGAAAACGAGAAAAAGAATGATACA
ATGGACTTTGGGGACTTGTGGGGAAGAGTGGGAGGGGGGCAAGGGATAAA
AGACTATAAATATGGTGCAGTTTATACTGCTCGGGTAATGGGTGCGCCAA
AATCTCACGAATCACCACTAAAGAGCTTACTCATGTAATCAAAAACCACC
TGTACCCCAATAACTTATGGAAAAATAAAAATTAAAAAAAAGAAGCTGCC
AGGCCACATCTTGAATGCTTTGCTGCTTAGAAATTACTTCCACCAGATAT
CCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCCCTAGAGCAGAG
GCACAATGCCACCAGTCTCTTTGCTAAAGCATAGCAAGAGTGACCCTTGC
TCCATTTCCCAATAAGTTCCTCATTTCCATCTGAGACCTCCTCAGCCTGG
AATTCACTGTCCTTATTGAAATCAGAATTTTGGTCACAACCATTTTAAAA
GCCTCTAGGAAGCTTCAAACTATCCCTCATCTTCCCATCTTCTTCTGAGC
CCTCCAAACTGTCGAATCTCTGCCCATTACCCAGTTCCAACACTGCTTCC
CATTTTTTGGTGTCCTTATAGCAATGCCCCACTTCTTGGTACCAATTTTC
TGTATTAGTCCATTCTCGCACTGCTATAAAGAAATGCCTGAGAATGGGAA
ATTTATAAAGAAAAGAGGTTTAATTGGCTCATAGTTCTTCAGGCTGTACA
GGAAGCATGGCTGGGGAGGCCTCAGGAAACTTACAATCATGGTGGAAGGC
AAAGAAGAAGCAAGCATGTCTTATATGTCTGGAACACAAGGAAGAGAGAG
AAGGGGAAGGTGT
 1 a0002c0003t0080g0084
a0002c0003t0080g0084
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.581-3704_581-3703i
others(2714): Show 
c.581-3704_581-3703insCATGAGAACTCACTCACTATCACAAGAA
CAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAGGCCC
CATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGGGACA
CAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCATGTC
CTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCAAAGT
TTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGAGACA
AGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTTAGTT
ACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCATTCC
AAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAAGTCC
AAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATCTCCT
TTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGGCTCC
AAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCCTGCA
TAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGGCACA
CAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATGGTAG
CCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTTTGTG
GGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGTTCTC
CATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCTGCAG
CAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAATCTA
GGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAGGCTT
AACACCACATGGAAGCTGCCAAGGCATACAGCTTGCACCCCCTGAAGCAG
CAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGCAGAT
GGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCCCTGG
GCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAGACCT
TTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGCATTT
TTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATTTTTG
TAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAAAGCA
TAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTTTAAA
TATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACATAGG
CGATATATATATATATATATATATATATATATATATATATATATATATAT
ATATATATGATGGAATACTACTCAGCCATAAAAAAGGAATGAATTAACAG
CATTTGCAGTGACCTGGATGAGATTAGAGACTATTATTCTAAGTGAAGTA
ACTCAGGAATGGAAAACCAAACATTGTTATGTTCTCACTGATATGTGGGA
GCTAAGCGATGAGGACGCAAAGGTACAAGAATGATACAATGTCCTGGCTA
ACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGTG
TAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA
ATGGCGTGAACTGGGGAGGCAGAGCTTGCAGTGAGCCAAAATTGCGCCAC
TGCACTCTAGCACTCTAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAA
AAAAAAAAAGAAAAAAGAAAAAGAAAACGAGAAAAAGAATGATACAATGG
ACTTTGGGGACTTGTGGGGAAGAGTGGGAGGGGGGCAAGGGATAAAAGAC
TATAAATATGGTGCAGTTTATACTGCTCGGGTAATGGGTGCGCCAAAATC
TCACGAATCACCACTAAAGAGCTTACTCATGTAATCAAAAACCACCTGTA
CCCCAATAACTTATGGAAAAATAAAAATTAAAAAAAAGAAGCTGCCAGGC
CACATCTTGAATGCTTTGCTGCTTAGAAATTACTTCCACCAGATATCCTA
AATCATCTCTCTCAAGTTCAAAGTTCCACAGATCCCTAGAGCAGAGGCAC
AATGCCACCAGTCTCTTTGCTAAAGCATAGCAAGAGTGACCCTTGCTCCA
TTTCCCAATAAGTTCCTCATTTCCATCTGAGACCTCCTCAGCCTGGAATT
CACTGTCCTTATTGAAATCAGAATTTTGGTCACAACCATTTTAAAAGCCT
CTAGGAAGCTTCAAACTATCCCTCATCTTCCCATCTTCTTCTGAGCCCTC
CAAACTGTCGAATCTCTGCCCATTACCCAGTTCCAACACTGCTTCCCATT
TTTTGGTGTCCTTATAGCAATGCCCCACTTCTTGGTACCAATTTTCTGTA
TTAGTCCATTCTCGCACTGCTATAAAGAAATGCCTGAGAATGGGAAATTT
ATAAAGAAAAGAGGTTTAATTGGCTCATAGTTCTTCAGGCTGTACAGGAA
GCATGGCTGGGGAGGCCTCAGGAAACTTACAATCATGGTGGAAGGCAAAG
AAGAAGCAAGCATGTCTTATATGTCTGGAACACAAGGAAGAGAGAGAAGG
GGAAGGTGTTACACACTTTTAAACAACCAGATCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76191190
chr5:76191190 C
C
 CTACACAC
others(2691): Show 
CTACACACTTTTAAACAACCAGATCTCATGAGAACTCACTCACTATCACA
AGAACAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAG
GCCCCATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGG
GACACAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCA
TGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCA
AAGTTTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGA
GACAAGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTT
AGTTACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCA
TTCCAAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAA
GTCCAAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATC
TCCTTTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGG
CTCCAAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCC
TGCATAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGG
CACACAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATG
GTAGCCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTT
TGTGGGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGT
TCTCCATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCT
GCAGCAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAA
TCTAGGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAG
GCTTAACACCACATGGAAGCTGCCAAGGCTTACAGCTTGCACCCCCTGAA
GCAGCAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGC
AGATGGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCC
CTGGGCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAG
ACCTTTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGC
ATTTTTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATT
TTTGTAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAA
AGCATAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTT
TAAATATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACA
TAGGCGATATATATATATATATATATATATATATATATATATATATATAT
ATGATGGAATACTACTCAGCCATAAAAAAGGAATGAATTAACAGCATTTG
CAGTGACCTGGATGAGATTAGAGACTATTATTCTAAGTGAAGTAACTCAG
GAATGGAAAACCAAACATTGTTATGTTCTCACTGATATGTGGGAGCTAAG
CGATGAGGACGCAAAGGTACAAGAATGATACAATGTCCTGGCTAACACAG
TGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGTGTAGTGG
TGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG
TGAACTGGGGAGGCAGAGCTTGCAGTGAGCCAAAATTGCGCCACTGCACT
CTAGCACTCTAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAA
AAAGAAAAAAGAAAAAGAAAACAAGAAAAAGAATGATACAATGGACTTTG
GGGACTTGTGGGGAAGAGTGGGAGGGGGGCAAGGGATAAAAGACTATAAA
TATGGTGCAGTTTATACTGCTCGGGTAATGGGTGCGCCAAAATCTCACGA
ATCACCACTAAAGAGCTTACTCATGTAATCAAAAACCACCTGTACCCCAA
TAACTTATGGAAAAATAAAAATTAAAAAAAAGAAGCTGCCAGGCCACATC
TTGAATGCTTTGCTGCTTAGAAATTACTTCCACCAGATATCCTAAATCAT
CTCTCTCAAGTTCAAAGTTCCACAGATCCCTAGAGCAGAGGCACAATGCC
ACCAGTCTCTTTGCTAAAGCATAGCAAGAGTGACCCTTGCTCCATTTCCC
AATAAGTTCCTCATTTCCATCTGAGACCTCCTCAGCCTGGAATTCACTGT
CCTTATTGAAATCAGAATTTTGGTCACAACCATTTTAAAAGCCTCTAGGA
AGCTTCAAACTATCCCTCATCTTCCCATCTTCTTCTGAGCCCTCCAAACT
GTCGAATCTCTGCCCATTACCCAGTTCCAACACTGCTTCCCATTTTTTGG
TGTCCTTATAGCAATGCCCCACTTCTTGGTACCAATTTTCTGTATTAGTC
CATTCTCGCACTGCTATAAAGAAATGCCTGAGAATGGGAAATTTATAAAG
AAAAGAGGTTTAATTGGCTCATAGTTCTTCAGGCTGTACAGGAAGCATGG
CTGGGGAGGCCTCAGGAAACTTACAATCATGGTGGAAGGCAAAGAAGAAG
CAAGCATGTCTTATATGTCTGGAACACAAGGAAGAGAAGGGGAAGGTGT
 1 a0001c0002t0036g0014
a0001c0002t0036g0014
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.581-3704_581-3703i
others(2700): Show 
c.581-3704_581-3703insCATGAGAACTCACTCACTATCACAAGAA
CAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAGGCCC
CATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGGGACA
CAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCATGTC
CTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCAAAGT
TTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGAGACA
AGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTTAGTT
ACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCATTCC
AAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAAGTCC
AAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATCTCCT
TTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGGCTCC
AAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCCTGCA
TAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGGCACA
CAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATGGTAG
CCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTTTGTG
GGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGTTCTC
CATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCTGCAG
CAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAATCTA
GGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAGGCTT
AACACCACATGGAAGCTGCCAAGGCTTACAGCTTGCACCCCCTGAAGCAG
CAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGCAGAT
GGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCCCTGG
GCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAGACCT
TTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGCATTT
TTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATTTTTG
TAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAAAGCA
TAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTTTAAA
TATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACATAGG
CGATATATATATATATATATATATATATATATATATATATATATATATGA
TGGAATACTACTCAGCCATAAAAAAGGAATGAATTAACAGCATTTGCAGT
GACCTGGATGAGATTAGAGACTATTATTCTAAGTGAAGTAACTCAGGAAT
GGAAAACCAAACATTGTTATGTTCTCACTGATATGTGGGAGCTAAGCGAT
GAGGACGCAAAGGTACAAGAATGATACAATGTCCTGGCTAACACAGTGAA
ACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGTGTAGTGGTGGG
CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA
CTGGGGAGGCAGAGCTTGCAGTGAGCCAAAATTGCGCCACTGCACTCTAG
CACTCTAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAG
AAAAAAGAAAAAGAAAACAAGAAAAAGAATGATACAATGGACTTTGGGGA
CTTGTGGGGAAGAGTGGGAGGGGGGCAAGGGATAAAAGACTATAAATATG
GTGCAGTTTATACTGCTCGGGTAATGGGTGCGCCAAAATCTCACGAATCA
CCACTAAAGAGCTTACTCATGTAATCAAAAACCACCTGTACCCCAATAAC
TTATGGAAAAATAAAAATTAAAAAAAAGAAGCTGCCAGGCCACATCTTGA
ATGCTTTGCTGCTTAGAAATTACTTCCACCAGATATCCTAAATCATCTCT
CTCAAGTTCAAAGTTCCACAGATCCCTAGAGCAGAGGCACAATGCCACCA
GTCTCTTTGCTAAAGCATAGCAAGAGTGACCCTTGCTCCATTTCCCAATA
AGTTCCTCATTTCCATCTGAGACCTCCTCAGCCTGGAATTCACTGTCCTT
ATTGAAATCAGAATTTTGGTCACAACCATTTTAAAAGCCTCTAGGAAGCT
TCAAACTATCCCTCATCTTCCCATCTTCTTCTGAGCCCTCCAAACTGTCG
AATCTCTGCCCATTACCCAGTTCCAACACTGCTTCCCATTTTTTGGTGTC
CTTATAGCAATGCCCCACTTCTTGGTACCAATTTTCTGTATTAGTCCATT
CTCGCACTGCTATAAAGAAATGCCTGAGAATGGGAAATTTATAAAGAAAA
GAGGTTTAATTGGCTCATAGTTCTTCAGGCTGTACAGGAAGCATGGCTGG
GGAGGCCTCAGGAAACTTACAATCATGGTGGAAGGCAAAGAAGAAGCAAG
CATGTCTTATATGTCTGGAACACAAGGAAGAGAAGGGGAAGGTGTTACAC
ACTTTTAAACAACCAGATCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76191190
chr5:76191190 C
C
 CTACACAC
others(2689): Show 
CTACACACTTTTAAACAACCAGATCTCATGAGAACTCACTCACTATCACA
AGAACAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAG
GCCCCATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGG
GACACAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCA
TGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCA
AAGTTTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGA
GACAAGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTT
AGTTACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCA
TTCCAAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAA
GTCCAAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATC
TCCTTTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGG
CTCCAAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCC
TGCATAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGG
CACACAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATG
GTAGCCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTT
TGTGGGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGT
TCTCCATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCT
GCAGCAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAA
TCTAGGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAG
GCTTAACACCACATGGAAGCTGCCAAGGCTTACAGCTTGCACCCCCTGAA
GCAGCAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGC
AGATGGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCC
CTGGGCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAG
ACCTTTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGC
ATTTTTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATT
TTTGTAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAA
AGCATAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTT
TAAATATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACA
TAGGCGATATATATATATATATATATATATATATATATATATATATATAT
GATGGAATACTACTCAGCCATAAAAAAGGAATGAATTAACAGCATTTGCA
GTGACCTGGATGAGATTAGAGACTATTATTCTAAGTGAAGTAACTCAGGA
ATGGAAAACCAAACATTGTTATGTTCTCACTGATATGTGGGAGCTAAGCG
ATGAGGACGCAAAGGTACAAGAATGATACAATGTCCTGGCTAACACAGTG
AAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGTGTAGTGGTG
GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG
AACTGGGGAGGCAGAGCTTGCAGTGAGCCAAAATTGCGCCACTGCACTCT
AGCACTCTAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAA
AGAAAAAAGAAAAAGAAAACAAGAAAAAGAATGATACAATGGACTTTGGG
GACTTGTGGGGAAGAGTGGGAGGGGGGCAAGGGATAAAAGACTATAAATA
TGGTGCAGTTTATACTGCTCGGGTAATGGGTGCGCCAAAATCTCACGAAT
CACCACTAAAGAGCTTACTCATGTAATCAAAAACCACCTGTACCCCAATA
ACTTATGGAAAAATAAAAATTAAAAAAAAGAAGCTGCCAGGCCACATCTT
GAATGCTTTGCTGCTTAGAAATTACTTCCACCAGATATCCTAAATCATCT
CTCTCAAGTTCAAAGTTCCACAGATCCCTAGAGCAGAGGCACAATGCCAC
CAGTCTCTTTGCTAAAGCATAGCAAGAGTGACCCTTGCTCCATTTCCCAA
TAAGTTCCTCATTTCCATCTGAGACCTCCTCAGCCTGGAATTCACTGTCC
TTATTGAAATCAGAATTTTGGTCACAACCATTTTAAAAGCCTCTAGGAAG
CTTCAAACTATCCCTCATCTTCCCATCTTCTTCTGAGCCCTCCAAACTGT
CGAATCTCTGCCCATTACCCAGTTCCAACACTGCTTCCCATTTTTTGGTG
TCCTTATAGCAATGCCCCACTTCTTGGTACCAATTTTCTGTATTAGTCCA
TTCTCGCACTGCTATAAAGAAATGCCTGAGAATGGGAAATTTATAAAGAA
AAGAGGTTTAATTGGCTCATAGTTCTTCAGGCTGTACAGGAAGCATGGCT
GGGGAGGCCTCAGGAAACTTACAATCATGGTGGAAGGCAAAGAAGAAGCA
AGCATGTCTTATATGTCTGGAACACAAGGAAGAGAAGGGGAAGGTGT
 1 a0003c0004t0009g0017
a0003c0004t0009g0017
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.581-3704_581-3703i
others(2698): Show 
c.581-3704_581-3703insCATGAGAACTCACTCACTATCACAAGAA
CAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAGGCCC
CATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGGGACA
CAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCATGTC
CTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCAAAGT
TTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGAGACA
AGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTTAGTT
ACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCATTCC
AAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAAGTCC
AAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATCTCCT
TTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGGCTCC
AAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCCTGCA
TAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGGCACA
CAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATGGTAG
CCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTTTGTG
GGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGTTCTC
CATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCTGCAG
CAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAATCTA
GGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAGGCTT
AACACCACATGGAAGCTGCCAAGGCTTACAGCTTGCACCCCCTGAAGCAG
CAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGCAGAT
GGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCCCTGG
GCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAGACCT
TTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGCATTT
TTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATTTTTG
TAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAAAGCA
TAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTTTAAA
TATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACATAGG
CGATATATATATATATATATATATATATATATATATATATATATATGATG
GAATACTACTCAGCCATAAAAAAGGAATGAATTAACAGCATTTGCAGTGA
CCTGGATGAGATTAGAGACTATTATTCTAAGTGAAGTAACTCAGGAATGG
AAAACCAAACATTGTTATGTTCTCACTGATATGTGGGAGCTAAGCGATGA
GGACGCAAAGGTACAAGAATGATACAATGTCCTGGCTAACACAGTGAAAC
CCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGTGTAGTGGTGGGCG
CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACT
GGGGAGGCAGAGCTTGCAGTGAGCCAAAATTGCGCCACTGCACTCTAGCA
CTCTAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAGAA
AAAAGAAAAAGAAAACAAGAAAAAGAATGATACAATGGACTTTGGGGACT
TGTGGGGAAGAGTGGGAGGGGGGCAAGGGATAAAAGACTATAAATATGGT
GCAGTTTATACTGCTCGGGTAATGGGTGCGCCAAAATCTCACGAATCACC
ACTAAAGAGCTTACTCATGTAATCAAAAACCACCTGTACCCCAATAACTT
ATGGAAAAATAAAAATTAAAAAAAAGAAGCTGCCAGGCCACATCTTGAAT
GCTTTGCTGCTTAGAAATTACTTCCACCAGATATCCTAAATCATCTCTCT
CAAGTTCAAAGTTCCACAGATCCCTAGAGCAGAGGCACAATGCCACCAGT
CTCTTTGCTAAAGCATAGCAAGAGTGACCCTTGCTCCATTTCCCAATAAG
TTCCTCATTTCCATCTGAGACCTCCTCAGCCTGGAATTCACTGTCCTTAT
TGAAATCAGAATTTTGGTCACAACCATTTTAAAAGCCTCTAGGAAGCTTC
AAACTATCCCTCATCTTCCCATCTTCTTCTGAGCCCTCCAAACTGTCGAA
TCTCTGCCCATTACCCAGTTCCAACACTGCTTCCCATTTTTTGGTGTCCT
TATAGCAATGCCCCACTTCTTGGTACCAATTTTCTGTATTAGTCCATTCT
CGCACTGCTATAAAGAAATGCCTGAGAATGGGAAATTTATAAAGAAAAGA
GGTTTAATTGGCTCATAGTTCTTCAGGCTGTACAGGAAGCATGGCTGGGG
AGGCCTCAGGAAACTTACAATCATGGTGGAAGGCAAAGAAGAAGCAAGCA
TGTCTTATATGTCTGGAACACAAGGAAGAGAAGGGGAAGGTGTTACACAC
TTTTAAACAACCAGATCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76191190
chr5:76191190 C
C
 CTACACAC
others(2659): Show 
CTACACACTTTTAAACAACCAGATCTCATGAGAACTCACTCACTATCACA
AGAACAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAG
GCCCCATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGG
GACACAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCA
TGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCA
AAGTTTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGA
GACAAGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTT
AGTTACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCA
TTCCAAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAA
GTCCAAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATC
TCCTTTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGG
CTCCAAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCC
TGCATAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGG
CACACAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATG
GTAGCCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTT
TGTGGGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGT
TCTCCATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCT
GCAGCAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAA
TCTAGGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAG
GCTTAACACCACATGGAAGCTGCCAAGGCTTACAGCTTGCACCCCCTGAA
GCAGCAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGC
AGATGGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCC
CTGGGCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAG
ACCTTTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGC
ATTTTTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATT
TTTGTAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAA
AGCATAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTT
TAAATATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACA
TAGGCGATATATATATATATGATGGAATACTACTCAGCCATAAAAAAGGA
ATGAATTAACAGCATTTGCAGTGACCTGGATGAGATTAGAGACTATTATT
CTAAGTGAAGTAACTCAGGAATGGAAAACCAAACATTGTTATGTTCTCAC
TGATATGTGGGAGCTAAGCGATGAGGACGCAAAGGTACAAGAATGATACA
ATGTCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAA
ATTAGCCAGGTGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC
TGAGGCAGGAGAATGGCGTGAACTGGGGAGGCAGAGCTTGCAGTGAGCCA
AAATCGCGCCACTGCACTCTAGCACTCTAGCCTGGGTGACAGAGCGAGAC
TCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAAGAAAACGAGAAAAAGA
ATGATACAATGGACTTTGGGGACTTGTGGGGAAGAGTGGGAGGGGGGCAA
GGGATAAAAGACTATAAATATGGTGCAGTTTATACTGCTCGGGTAATGGG
TGCGCCAAAATCTCACGAATCACCACTAAAGAGCTTACTCATGTAATCAA
AAACTACCTGTACCCCAATAACTTATGGAAAAATAAAAATTAAAAAAAAG
AAGCTGCCAGGCCACATCTTGAATGCTTTGCTGCTTAGAAATTACTTCCA
CCAGATATCCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCCCTA
GAGCAGAGGCACAATGCCACCAGTCTCTTTGCTAAAGCATAGCAAGAGTG
ACCCTTGCTCCATTTCCCAATAAGTTCCTCATTTCCATCTGAGACCTCCT
CAGCCTGGAATTCACTGTCCTTATTGAAATCAGAATTTTGGTCACAACCA
TTTTAAAAGCCTCTAGGAAGCTTCAAACTATCCCTCATCTTCCCATCTTC
TTCTGAGCCCTCCAAACTGTCGAATCTCTGCCCATTACCCAGTTCCAACA
CTGCTTCCCATTTTTTGGTGTCCTTATAGCAATGCCCCACTTCTTGGTAC
CAATTTTCTGTATTAGTCCATTCTCGCACTGCTATAAAGAAATGCCTGAG
AATGGGAAATTTATAAAGAAAAGAGGTTTAATTGGCTCATAGTTCTTCAG
GCTGTACAGGAAGCATGGTTGGGGAGGCCTCAGGAAACTTACAATCATGG
TGGAAGGCAAAGAAGAAGCAAGCATGTCTTATATGTCTGGAACACAAGGA
AGAGAAGGGGAAGGTGT
 10 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0083
others(7): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0002t0102g0234
a0001c0007t0007g0078
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0005c0011t0143g0015
 10 HG00642.hp2
HG02280.hp2
HG02451.hp1
others(7): Show 
HG00642.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02647.hp1
HG02922.hp2
HG03225.hp2
NA20905.hp1
 intron_variant MODIFIER c.581-3704_581-3703i
others(2668): Show 
c.581-3704_581-3703insCATGAGAACTCACTCACTATCACAAGAA
CAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAGGCCC
CATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGGGACA
CAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCATGTC
CTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCAAAGT
TTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGAGACA
AGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTTAGTT
ACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCATTCC
AAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAAGTCC
AAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATCTCCT
TTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGGCTCC
AAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCCTGCA
TAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGGCACA
CAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATGGTAG
CCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTTTGTG
GGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGTTCTC
CATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCTGCAG
CAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAATCTA
GGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAGGCTT
AACACCACATGGAAGCTGCCAAGGCTTACAGCTTGCACCCCCTGAAGCAG
CAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGCAGAT
GGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCCCTGG
GCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAGACCT
TTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGCATTT
TTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATTTTTG
TAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAAAGCA
TAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTTTAAA
TATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACATAGG
CGATATATATATATATGATGGAATACTACTCAGCCATAAAAAAGGAATGA
ATTAACAGCATTTGCAGTGACCTGGATGAGATTAGAGACTATTATTCTAA
GTGAAGTAACTCAGGAATGGAAAACCAAACATTGTTATGTTCTCACTGAT
ATGTGGGAGCTAAGCGATGAGGACGCAAAGGTACAAGAATGATACAATGT
CCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTA
GCCAGGTGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG
GCAGGAGAATGGCGTGAACTGGGGAGGCAGAGCTTGCAGTGAGCCAAAAT
CGCGCCACTGCACTCTAGCACTCTAGCCTGGGTGACAGAGCGAGACTCTG
TCTCAAAAAAAAAAAAAGAAAAAAGAAAAAGAAAACGAGAAAAAGAATGA
TACAATGGACTTTGGGGACTTGTGGGGAAGAGTGGGAGGGGGGCAAGGGA
TAAAAGACTATAAATATGGTGCAGTTTATACTGCTCGGGTAATGGGTGCG
CCAAAATCTCACGAATCACCACTAAAGAGCTTACTCATGTAATCAAAAAC
TACCTGTACCCCAATAACTTATGGAAAAATAAAAATTAAAAAAAAGAAGC
TGCCAGGCCACATCTTGAATGCTTTGCTGCTTAGAAATTACTTCCACCAG
ATATCCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCCCTAGAGC
AGAGGCACAATGCCACCAGTCTCTTTGCTAAAGCATAGCAAGAGTGACCC
TTGCTCCATTTCCCAATAAGTTCCTCATTTCCATCTGAGACCTCCTCAGC
CTGGAATTCACTGTCCTTATTGAAATCAGAATTTTGGTCACAACCATTTT
AAAAGCCTCTAGGAAGCTTCAAACTATCCCTCATCTTCCCATCTTCTTCT
GAGCCCTCCAAACTGTCGAATCTCTGCCCATTACCCAGTTCCAACACTGC
TTCCCATTTTTTGGTGTCCTTATAGCAATGCCCCACTTCTTGGTACCAAT
TTTCTGTATTAGTCCATTCTCGCACTGCTATAAAGAAATGCCTGAGAATG
GGAAATTTATAAAGAAAAGAGGTTTAATTGGCTCATAGTTCTTCAGGCTG
TACAGGAAGCATGGTTGGGGAGGCCTCAGGAAACTTACAATCATGGTGGA
AGGCAAAGAAGAAGCAAGCATGTCTTATATGTCTGGAACACAAGGAAGAG
AAGGGGAAGGTGTTACACACTTTTAAACAACCAGATCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76191190
chr5:76191190 C
C
 CTACACAC
others(2663): Show 
CTACACACTTTTAAACAACCAGATCTCATGAGAACTCACTCACTATCACA
AGAACAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAG
GCCCCATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGG
GACACAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCA
TGTCCTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCA
AAGTTTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGA
GACAAGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTT
AGTTACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCA
TTCCAAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAA
GTCCAAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATC
TCCTTTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGG
CTCCAAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCC
TGCATAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGG
CACACAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATG
GTAGCCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTT
TGTGGGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGT
TCTCCATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCT
GCAGCAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAA
TCTAGGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAG
GCTTAACACCACATGGAAGCTGCCAAGGCTTACAGCTTGCACCCCCTGAA
GCAGCAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGC
AGATGGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCC
CTGGGCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAG
ACCTTTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGC
ATTTTTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATT
TTTGTAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAA
AGCATAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTT
TAAATATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACA
TAGGTGATATATATATATATGATGGAATACTACTCAGCCATAAAAAAGGA
ATGAATTAACAGCATTTGCAGTGACCTGGATGAGATTAGAGACTATTATT
CTAAGTGAAGTAACTCAGGAATGGAAAACCAAACATTGTTATGTTCTCAC
TGATATGTGGGAGCTAAGCGATGAGGACGCAAAGGTACAAGAATGATACA
ATGTCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAA
ATTAGCCAGGTGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC
TGAGGCAGGAGAATGGCGTGAACTGGGGAGGCAGAGCTTGCAGTGAGCCA
AAATTGCGCCACTGCACTCTAGCACTCTAGCCTGGGTGACAGAGCGAGAC
TCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAAGAAAACGAGAAAAAGA
ATGATACAATGGACTTTGGGGACTTGTGGGGAAGAGTGGGAGGGGGGCAA
GGGATAAAAGACTATAAATATGGTGCAGTTTATACTGCTCGGGTAATGGG
TGCGCCAAAATCTCACAAATCACCACTAAAGAGCTTACTCATGTAATCAA
AAACCACCTGTACCCCAATAACTTATGGAAAAATAAAAATTAAAAAAAAG
AAGCTGCCAGGCCACATCTTGAATGCTTTGCTGCTTAGAAATTACTTCCA
CCAGATATCCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCCCTA
GAGCAGAGGCACAATGCCACCAGTCTCTTTGCTAAAGCATAGCAAGAGTG
ACCCTTGCTCCATTTCCCAATAAGTTCCTCATTTCCATCTGAGACCTCCT
CAGCCTGGAATTCACTGTCCTTATTGAAATCAGAATTTTGGTCACAACCA
TTTTAAAAGCCTCTAGGAAGCTTCAAACTATCCCTCATCTTCCCATCTTC
TTCTGAGCCCTCCAAACTGTCGAATCTCTGCCCATTACCCAGTTCCAACA
CTGCTTCCCATTTTTTGGTGTCCTTATAGCAATGCCCCACTTCTTGGTAC
CAATTTTCTGTATTAGTCCATTCTCGCACTGCTATAAAGAAATGCCTGAG
AATGGGAAATTTATAAAGAAAAGAGGTTTAATTGGCTCATAGTTCTTCAG
GCTGTACAGGAAGCATGGCTGGGGAGGCCTCAGGAAACTTACAATCATGG
TGGAAGGCAAAGAAGAAGCAAGCATGTCTTATATGTCTGGAACACAAGGA
AGAGAGAGAAGGGGAAGGTGT
 5 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(2): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0003c0004t0019g0145
a0003c0004t0058g0051
 5 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(2): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-3704_581-3703i
others(2672): Show 
c.581-3704_581-3703insCATGAGAACTCACTCACTATCACAAGAA
CAGAAAAGGAGAAATCGACCCCCAAGATCCAATCACCTCCTACCAGGCCC
CATCTCCAACATTAGCAATTACAGTTTGACATGAGGTCTGGGAAGGGACA
CAGACCCAAACTTTATCATTCTGCCTCTGGCCCCTTTCAAATCTCATGTC
CTTCTCACATTTCAAAATACAATTATGCCTTCCCAACAGTCTCCCAAAGT
TTTAACTCATTCCAGCATTAACTCAAAAGTCCAAAGTCTCATCTGAGACA
AGGCTAATCTCTTCCACCTATGAGCTCATAAAATCAAAAACAAGTTAGTT
ACTTCCAAGATACAATGGGGGTACAGATATTGGGTAAATACCGCCATTCC
AAAACAGAAAAACCAACCTAAAGAAATAGGCTACAGGACCCTGCAAGTCC
AAAACCCAGCAGGAGAGTCATTAAATCTTAAAGCTCCAAAATAATCTCCT
TTGACTCCATGTTTCACATCCAGGTCACACTGATGCAAGAGGTAGGCTCC
AAAGGCCTTGGGCAGCTCCACCCCTGTGGCTCTGCAGGGCTCAGCCTGCA
TAGCTTCTCTCAAGCTCTGGCATTGAGTGCCTGTGGCTTTTCCAGGCACA
CAGTGCAAGCTGTCGGTGGATCTACCATTCTGGAGTCTGGAGAATGGTAG
CCCTCTTGTCACAGCTCCACTAGGCAGTGGCCCAGTGGGGACTCTTTGTG
GGGTCTCCAACCCCACATTTGCCCTTCACACTGCCCTAGTAGAGGTTCTC
CATGAACCTCTACTAGGAAGTAACCTCTACTAGAAGTCTCACTTCTGCAG
CAGACTGCCACCTCGACATCCAGGCTTTTCCATACATCTTCTGAAATCTA
GGCAGAGGCTGCCAAGCCTTAGCTCTTGCACTCTGTACACCCATAGGCTT
AACACCACATGGAAGCTGCCAAGGCTTACAGCTTGCACCCCCTGAAGCAG
CAGGCTGAGTACCTGGGCCCCTTTGAGCCACGGCTGGAGGTGGAGCAGAT
GGGATGCAGGGAGTAGTGTCCTGAGGCTTCACAGGGCAGCAGAGCCCTGG
GCCTGGCCCAGGCCCACAGAACCATTCTTCCCTCCTAGGCCTCCAGACCT
TTGATGGAAGGGGCTGCCATGGAGGTCCCTGAAATGCCTTCGAGGCATTT
TTCCCATTGTCTTGGCTATTAGCAATTGACTCTTCTTATGTAAATTTTTG
TAGCCTGCTTTAATTCCTCCCCTGAAAATTAGTTTTTCTTTTCTAAAGCA
TAGCCTGGCTACAAATTTTCCAAACTTTTACACTCTGCTTCCCTTTTAAA
TATAAATTCCAGTTTCAGGTCATTTATTTGCTCATGCATATAAACATAGG
TGATATATATATATATGATGGAATACTACTCAGCCATAAAAAAGGAATGA
ATTAACAGCATTTGCAGTGACCTGGATGAGATTAGAGACTATTATTCTAA
GTGAAGTAACTCAGGAATGGAAAACCAAACATTGTTATGTTCTCACTGAT
ATGTGGGAGCTAAGCGATGAGGACGCAAAGGTACAAGAATGATACAATGT
CCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTA
GCCAGGTGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG
GCAGGAGAATGGCGTGAACTGGGGAGGCAGAGCTTGCAGTGAGCCAAAAT
TGCGCCACTGCACTCTAGCACTCTAGCCTGGGTGACAGAGCGAGACTCTG
TCTCAAAAAAAAAAAAAGAAAAAAGAAAAAGAAAACGAGAAAAAGAATGA
TACAATGGACTTTGGGGACTTGTGGGGAAGAGTGGGAGGGGGGCAAGGGA
TAAAAGACTATAAATATGGTGCAGTTTATACTGCTCGGGTAATGGGTGCG
CCAAAATCTCACAAATCACCACTAAAGAGCTTACTCATGTAATCAAAAAC
CACCTGTACCCCAATAACTTATGGAAAAATAAAAATTAAAAAAAAGAAGC
TGCCAGGCCACATCTTGAATGCTTTGCTGCTTAGAAATTACTTCCACCAG
ATATCCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCCCTAGAGC
AGAGGCACAATGCCACCAGTCTCTTTGCTAAAGCATAGCAAGAGTGACCC
TTGCTCCATTTCCCAATAAGTTCCTCATTTCCATCTGAGACCTCCTCAGC
CTGGAATTCACTGTCCTTATTGAAATCAGAATTTTGGTCACAACCATTTT
AAAAGCCTCTAGGAAGCTTCAAACTATCCCTCATCTTCCCATCTTCTTCT
GAGCCCTCCAAACTGTCGAATCTCTGCCCATTACCCAGTTCCAACACTGC
TTCCCATTTTTTGGTGTCCTTATAGCAATGCCCCACTTCTTGGTACCAAT
TTTCTGTATTAGTCCATTCTCGCACTGCTATAAAGAAATGCCTGAGAATG
GGAAATTTATAAAGAAAAGAGGTTTAATTGGCTCATAGTTCTTCAGGCTG
TACAGGAAGCATGGCTGGGGAGGCCTCAGGAAACTTACAATCATGGTGGA
AGGCAAAGAAGAAGCAAGCATGTCTTATATGTCTGGAACACAAGGAAGAG
AGAGAAGGGGAAGGTGTTACACACTTTTAAACAACCAGATCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76191190
chr5:76191190 C
C
 T
T
 58 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0023
others(55): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0083g0204
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0144g0155
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0139g0016
a0003c0005t0156g0193
 58 HG00140.hp1
HG00280.hp1
HG00558.hp1
others(55): Show 
HG00140.hp1
HG00280.hp1
HG00558.hp1
HG00735.hp2
HG01109.hp2
HG01168.hp1
HG01243.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01891.hp1
HG01928.hp2
HG01943.hp2
HG02056.hp1
HG02080.hp2
HG02109.hp1
HG02145.hp1
HG02486.hp2
HG02523.hp2
HG02602.hp2
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG04199.hp1
HG04204.hp2
NA18522.hp2
NA18906.hp1
NA18945.hp1
NA18951.hp1
NA18960.hp1
NA18981.hp2
NA18990.hp2
NA18998.hp2
NA19001.hp1
NA19007.hp2
NA19030.hp1
NA19079.hp2
NA19083.hp1
NA19083.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.581-3729C>T
c.581-3729C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191190
chr5:76191205 C
C
 T
T
 1 a0003c0004t0012g0222
a0003c0004t0012g0222
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.581-3714C>T
c.581-3714C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191205
chr5:76191359 A
A
 G
G
 1 a0001c0002t0009g0186
a0001c0002t0009g0186
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.581-3560A>G
c.581-3560A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191359
chr5:76191426 C
C
 A
A
 13 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(10): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0002t0102g0234
a0001c0007t0007g0078
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0005c0011t0143g0015
 13 HG00642.hp2
HG00733.hp1
HG02280.hp2
others(10): Show 
HG00642.hp2
HG00733.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp1
HG02922.hp2
HG03225.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.581-3493C>A
c.581-3493C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191426
chr5:76191437 T
T
 C
C
 1 a0001c0002t0097g0114
a0001c0002t0097g0114
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.581-3482T>C
c.581-3482T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191437
chr5:76191541 T
T
 C
C
 1 a0001c0002t0099g0132
a0001c0002t0099g0132
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.581-3378T>C
c.581-3378T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76191541
chr5:76192062 T
T
 A
A
 1 a0001c0002t0142g0001
a0001c0002t0142g0001
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.581-2857T>A
c.581-2857T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76192062
chr5:76192255 G
G
 A
A
 4 a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0002t0036g0014
others(1): Show 
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0002t0036g0014
a0003c0004t0009g0017
 4 HG02717.hp2
HG04199.hp2
NA18998.hp1
others(1): Show 
HG02717.hp2
HG04199.hp2
NA18998.hp1
NA20129.hp2
 intron_variant MODIFIER c.581-2664G>A
c.581-2664G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76192255
chr5:76192318 G
G
 A
A
 1 a0001c0001t0005g0162
a0001c0001t0005g0162
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.581-2601G>A
c.581-2601G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76192318
chr5:76192570 C
C
 T
T
 4 a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0002t0036g0014
others(1): Show 
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0002t0036g0014
a0003c0004t0009g0017
 4 HG02717.hp2
HG04199.hp2
NA18998.hp1
others(1): Show 
HG02717.hp2
HG04199.hp2
NA18998.hp1
NA20129.hp2
 intron_variant MODIFIER c.581-2349C>T
c.581-2349C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76192570
chr5:76192587 T
T
 A
A
 5 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(2): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0003c0004t0019g0145
a0003c0004t0058g0051
 5 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(2): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-2332T>A
c.581-2332T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76192587
chr5:76192829 A
A
 AT
AT
 5 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(2): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
a0003c0004t0066g0086
 5 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(2): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.581-2085dupT
c.581-2085dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 INFO_REALIGN_3_PRIME chr5 76192829
chr5:76192870 CA
CA
 C
C
 5 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(2): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0003c0004t0019g0145
a0003c0004t0058g0051
 5 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(2): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.581-2048delA
c.581-2048delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76192870
chr5:76192885 C
C
 T
T
 1 a0001c0001t0052g0055
a0001c0001t0052g0055
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.581-2034C>T
c.581-2034C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76192885
chr5:76192917 T
T
 C
C
 4 a0001c0001t0005g0162
a0001c0001t0032g0160
a0001c0001t0123g0002
others(1): Show 
a0001c0001t0005g0162
a0001c0001t0032g0160
a0001c0001t0123g0002
a0001c0002t0020g0042
 4 HG03704.hp2
NA18952.hp1
NA18966.hp1
others(1): Show 
HG03704.hp2
NA18952.hp1
NA18966.hp1
NA19072.hp2
 intron_variant MODIFIER c.581-2002T>C
c.581-2002T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76192917
chr5:76193134 A
A
 G
G
 23 a0001c0001t0002g0024
a0001c0001t0007g0093
a0001c0001t0009g0190
others(20): Show 
a0001c0001t0002g0024
a0001c0001t0007g0093
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0122g0011
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0035g0178
a0001c0002t0100g0206
a0002c0003t0026g0230
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
 23 HG00738.hp1
HG00741.hp2
HG01106.hp1
others(20): Show 
HG00738.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01255.hp2
HG01884.hp2
HG01891.hp1
HG02145.hp2
HG02280.hp1
HG02572.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03540.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.581-1785A>G
c.581-1785A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76193134
chr5:76193337 A
A
 T
T
 9 a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0051g0035
others(6): Show 
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0036g0014
a0002c0003t0080g0084
a0003c0004t0009g0017
a0003c0004t0066g0086
 9 HG02717.hp2
HG02886.hp1
HG02895.hp2
others(6): Show 
HG02717.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
HG04199.hp2
NA18998.hp1
NA20129.hp2
 intron_variant MODIFIER c.581-1582A>T
c.581-1582A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76193337
chr5:76193359 T
T
 A
A
 5 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(2): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
a0003c0004t0066g0086
 5 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(2): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.581-1560T>A
c.581-1560T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76193359
chr5:76193470 A
A
 G
G
 2 a0001c0002t0014g0136
a0001c0002t0099g0132
a0001c0002t0014g0136
a0001c0002t0099g0132
 2 HG01168.hp2
HG01261.hp2
HG01168.hp2
HG01261.hp2
 intron_variant MODIFIER c.581-1449A>G
c.581-1449A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76193470
chr5:76193940 G
G
 A
A
 2 a0001c0001t0001g0059
a0001c0001t0053g0045
a0001c0001t0001g0059
a0001c0001t0053g0045
 2 HG02602.hp1
HG03704.hp1
HG02602.hp1
HG03704.hp1
 intron_variant MODIFIER c.581-979G>A
c.581-979G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76193940
chr5:76194147 A
A
 G
G
 5 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(2): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
a0003c0004t0066g0086
 5 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(2): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.581-772A>G
c.581-772A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76194147
chr5:76194166 C
C
 G
G
 32 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(29): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0135g0198
a0001c0002t0036g0014
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0007g0078
a0002c0003t0080g0084
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0005c0011t0143g0015
 32 HG00642.hp2
HG00733.hp1
HG01891.hp2
others(29): Show 
HG00642.hp2
HG00733.hp1
HG01891.hp2
HG02083.hp1
HG02280.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG04199.hp2
NA18998.hp1
NA19007.hp1
NA19030.hp1
NA19081.hp2
NA19088.hp1
NA20129.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.581-753C>G
c.581-753C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76194166
chr5:76194237 G
G
 A
A
 1 a0001c0001t0005g0100
a0001c0001t0005g0100
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.581-682G>A
c.581-682G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76194237
chr5:76194262 T
T
 C
C
 1 a0001c0001t0009g0190
a0001c0001t0009g0190
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.581-657T>C
c.581-657T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76194262
chr5:76194563 C
C
 T
T
 2 a0002c0003t0129g0188
a0003c0004t0120g0005
a0002c0003t0129g0188
a0003c0004t0120g0005
 2 HG01243.hp2
HG03130.hp1
HG01243.hp2
HG03130.hp1
 intron_variant MODIFIER c.581-356C>T
c.581-356C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76194563
chr5:76194755 T
T
 G
G
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.581-164T>G
c.581-164T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 2/12 chr5 76194755
chr5:76195226 G
G
 A
A
 9 a0001c0001t0018g0044
a0001c0001t0050g0041
a0001c0001t0051g0035
others(6): Show 
a0001c0001t0018g0044
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0135g0198
a0001c0002t0036g0014
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
a0003c0004t0009g0017
 9 HG01891.hp2
HG02717.hp2
HG02818.hp2
others(6): Show 
HG01891.hp2
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG04199.hp2
NA18998.hp1
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.761+127G>A
c.761+127G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76195226
chr5:76195662 T
T
 C
C
 1 a0001c0001t0047g0046
a0001c0001t0047g0046
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.761+563T>C
c.761+563T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76195662
chr5:76195848 A
A
 G
G
 1 a0001c0001t0004g0080
a0001c0001t0004g0080
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.761+749A>G
c.761+749A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76195848
chr5:76196064 A
A
 G
G
 5 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(2): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0003c0004t0019g0145
a0003c0004t0058g0051
 5 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(2): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.761+965A>G
c.761+965A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76196064
chr5:76196163 C
C
 G
G
 2 a0002c0003t0129g0188
a0003c0004t0120g0005
a0002c0003t0129g0188
a0003c0004t0120g0005
 2 HG01243.hp2
HG03130.hp1
HG01243.hp2
HG03130.hp1
 intron_variant MODIFIER c.761+1064C>G
c.761+1064C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76196163
chr5:76196182 T
T
 C
C
 5 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(2): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
a0003c0004t0066g0086
 5 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(2): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.761+1083T>C
c.761+1083T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76196182
chr5:76196392 C
C
 T
T
 2 a0001c0001t0004g0229
a0001c0001t0017g0034
a0001c0001t0004g0229
a0001c0001t0017g0034
 2 HG03139.hp1
NA20805.hp2
HG03139.hp1
NA20805.hp2
 intron_variant MODIFIER c.761+1293C>T
c.761+1293C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76196392
chr5:76196591 T
T
 C
C
 2 a0001c0001t0141g0013
a0001c0002t0025g0232
a0001c0001t0141g0013
a0001c0002t0025g0232
 2 HG02055.hp2
HG02809.hp1
HG02055.hp2
HG02809.hp1
 intron_variant MODIFIER c.761+1492T>C
c.761+1492T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76196591
chr5:76196703 A
A
 G
G
 2 a0001c0001t0001g0027
a0002c0003t0001g0026
a0001c0001t0001g0027
a0002c0003t0001g0026
 2 HG04228.hp2
NA19011.hp1
HG04228.hp2
NA19011.hp1
 intron_variant MODIFIER c.761+1604A>G
c.761+1604A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76196703
chr5:76196714 G
G
 A
A
 13 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(10): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0002t0102g0234
a0001c0007t0007g0078
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0005c0011t0143g0015
 13 HG00642.hp2
HG00733.hp1
HG02280.hp2
others(10): Show 
HG00642.hp2
HG00733.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp1
HG02922.hp2
HG03225.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.761+1615G>A
c.761+1615G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76196714
chr5:76196786 A
A
 G
G
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.761+1687A>G
c.761+1687A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76196786
chr5:76196808 G
G
 T
T
 1 a0001c0002t0100g0206
a0001c0002t0100g0206
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.761+1709G>T
c.761+1709G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76196808
chr5:76196877 C
C
 T
T
 32 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(29): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0135g0198
a0001c0002t0036g0014
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0007g0078
a0002c0003t0080g0084
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0005c0011t0143g0015
 32 HG00642.hp2
HG00733.hp1
HG01891.hp2
others(29): Show 
HG00642.hp2
HG00733.hp1
HG01891.hp2
HG02083.hp1
HG02280.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG04199.hp2
NA18998.hp1
NA19007.hp1
NA19030.hp1
NA19081.hp2
NA19088.hp1
NA20129.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.761+1778C>T
c.761+1778C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76196877
chr5:76196887 T
T
 C
C
 1 a0001c0001t0003g0171
a0001c0001t0003g0171
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.761+1788T>C
c.761+1788T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76196887
chr5:76197238 A
A
 G
G
 5 a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
others(2): Show 
a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
 5 HG01891.hp2
HG02818.hp2
HG02895.hp1
others(2): Show 
HG01891.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
NA19030.hp1
 intron_variant MODIFIER c.761+2139A>G
c.761+2139A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76197238
chr5:76197481 T
T
 C
C
 13 a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0009g0008
others(10): Show 
a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0009g0008
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0008t0002g0216
 13 HG00735.hp2
HG02055.hp1
HG02109.hp1
others(10): Show 
HG00735.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp1
HG02630.hp2
HG02970.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.761+2382T>C
c.761+2382T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76197481
chr5:76197587 C
C
 T
T
 37 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(34): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0090g0106
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0114g0125
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0091g0107
 37 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(34): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01361.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02735.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18952.hp2
NA18966.hp2
NA18968.hp2
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19030.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.761+2488C>T
c.761+2488C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76197587
chr5:76197588 G
G
 A
A
 5 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(2): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
a0003c0004t0066g0086
 5 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(2): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.761+2489G>A
c.761+2489G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76197588
chr5:76197707 C
C
 CAGATAGA
others(1): Show 
CAGATAGAT
 2 a0001c0002t0014g0136
a0001c0002t0099g0132
a0001c0002t0014g0136
a0001c0002t0099g0132
 2 HG01168.hp2
HG01261.hp2
HG01168.hp2
HG01261.hp2
 intron_variant MODIFIER c.761+2630_761+2637d
others(10): Show 
c.761+2630_761+2637dupGATAGATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76197707
chr5:76197707 C
C
 CAGATAGA
others(5): Show 
CAGATAGATAGAT
 10 a0001c0002t0006g0156
a0001c0002t0009g0186
a0001c0002t0037g0154
others(7): Show 
a0001c0002t0006g0156
a0001c0002t0009g0186
a0001c0002t0037g0154
a0001c0002t0096g0112
a0001c0002t0098g0113
a0001c0002t0104g0020
a0001c0002t0108g0120
a0001c0002t0154g0197
a0002c0003t0072g0143
a0006c0012t0035g0153
 10 HG00140.hp2
HG01106.hp2
HG01361.hp1
others(7): Show 
HG00140.hp2
HG01106.hp2
HG01361.hp1
HG01515.hp1
HG02109.hp2
HG02602.hp2
HG03834.hp1
HG04184.hp2
NA18981.hp2
NA20300.hp1
 intron_variant MODIFIER c.761+2626_761+2637d
others(14): Show 
c.761+2626_761+2637dupGATAGATAGATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76197707
chr5:76197707 C
C
 CAGATAGA
others(9): Show 
CAGATAGATAGATAGAT
 22 a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0003g0165
others(19): Show 
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0003g0165
a0001c0001t0005g0099
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0033g0003
a0001c0001t0126g0172
a0001c0002t0013g0082
a0001c0002t0015g0135
a0001c0002t0111g0133
a0001c0002t0142g0001
a0002c0003t0124g0183
a0002c0006t0062g0068
a0002c0006t0094g0142
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0140g0163
a0007c0014t0005g0180
 22 HG01256.hp2
HG01433.hp1
HG01496.hp2
others(19): Show 
HG01256.hp2
HG01433.hp1
HG01496.hp2
HG02056.hp1
HG02056.hp2
HG02109.hp1
HG02698.hp1
HG02723.hp2
HG02738.hp1
HG02965.hp2
HG03130.hp2
HG03195.hp2
HG03834.hp2
NA18955.hp1
NA18968.hp1
NA18992.hp2
NA19005.hp1
NA19011.hp2
NA19060.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.761+2622_761+2637d
others(18): Show 
c.761+2622_761+2637dupGATAGATAGATAGATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76197707
chr5:76197707 C
C
 CAGATAGA
others(13): Show 
CAGATAGATAGATAGATAGAT
 64 a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0061
others(61): Show 
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0061
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0018g0044
a0001c0001t0024g0203
a0001c0001t0032g0004
a0001c0001t0042g0072
a0001c0001t0051g0035
a0001c0001t0070g0227
a0001c0001t0075g0115
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0060g0052
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0144g0155
a0001c0002t0150g0191
a0001c0007t0007g0078
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0129g0188
a0002c0006t0061g0049
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0005t0030g0118
a0003c0005t0156g0193
 64 HG00280.hp1
HG00423.hp1
HG00423.hp2
others(61): Show 
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp2
HG01109.hp1
HG01168.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp2
HG02145.hp1
HG02257.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp2
HG02647.hp2
HG02698.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03225.hp2
HG04199.hp2
HG04204.hp2
NA18945.hp1
NA18945.hp2
NA18952.hp1
NA18955.hp2
NA18960.hp1
NA18968.hp2
NA18981.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp2
NA19063.hp2
NA19068.hp1
NA19072.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19091.hp2
NA20129.hp1
 intron_variant MODIFIER c.761+2618_761+2637d
others(22): Show 
c.761+2618_761+2637dupGATAGATAGATAGATAGATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76197707
chr5:76197707 C
C
 CAGATAGA
others(17): Show 
CAGATAGATAGATAGATAGATAGAT
 87 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0059
others(84): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0059
a0001c0001t0002g0024
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0037
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0052g0055
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0122g0011
a0001c0001t0133g0157
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0025g0232
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0009t0134g0182
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0006t0034g0168
a0002c0006t0095g0091
a0002c0008t0002g0221
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0034g0173
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 87 HG00280.hp2
HG00558.hp1
HG00558.hp2
others(84): Show 
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02080.hp2
HG02083.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp1
HG03540.hp2
HG03704.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA19005.hp2
NA19060.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.761+2614_761+2637d
others(26): Show 
c.761+2614_761+2637dupGATAGATAGATAGATAGATAGATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76197707
chr5:76197707 C
C
 CAGATAGA
others(21): Show 
CAGATAGATAGATAGATAGATAGATAGAT
 31 a0001c0001t0001g0039
a0001c0001t0001g0058
a0001c0001t0004g0229
others(28): Show 
a0001c0001t0001g0039
a0001c0001t0001g0058
a0001c0001t0004g0229
a0001c0001t0041g0036
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0132g0009
a0001c0001t0137g0159
a0001c0002t0006g0174
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0106g0210
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0087g0021
a0002c0006t0063g0053
a0003c0004t0012g0222
a0003c0005t0115g0139
 31 HG00140.hp1
HG00642.hp1
HG01074.hp2
others(28): Show 
HG00140.hp1
HG00642.hp1
HG01074.hp2
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01884.hp2
HG01928.hp1
HG02015.hp2
HG02258.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02630.hp2
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18960.hp2
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19088.hp1
NA19240.hp2
 intron_variant MODIFIER c.761+2610_761+2637d
others(30): Show 
c.761+2610_761+2637dupGATAGATAGATAGATAGATAGATAGATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76197707
chr5:76197707 C
C
 CAGATAGA
others(25): Show 
CAGATAGATAGATAGATAGATAGATAGATAGAT
 14 a0001c0001t0023g0102
a0001c0001t0048g0047
a0001c0001t0053g0045
others(11): Show 
a0001c0001t0023g0102
a0001c0001t0048g0047
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0117g0012
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0114g0125
a0002c0003t0085g0215
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0116g0126
 14 HG00735.hp2
HG01074.hp1
HG01891.hp1
others(11): Show 
HG00735.hp2
HG01074.hp1
HG01891.hp1
HG02145.hp2
HG02258.hp2
HG03209.hp1
HG03704.hp1
HG04199.hp1
NA18952.hp2
NA18975.hp1
NA19001.hp1
NA19001.hp2
NA19240.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+2637_761+2638i
others(34): Show 
c.761+2637_761+2638insGATAGATAGATAGATAGATAGATAGATA
GATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76197707
chr5:76197707 C
C
 CAGATAGA
others(29): Show 
CAGATAGATAGATAGATAGATAGATAGATAGATAGAT
 1 a0001c0001t0131g0181
a0001c0001t0131g0181
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.761+2637_761+2638i
others(38): Show 
c.761+2637_761+2638insGATAGATAGATAGATAGATAGATAGATA
GATAGATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76197707
chr5:76197760 C
C
 T
T
 1 a0003c0004t0026g0147
a0003c0004t0026g0147
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.761+2661C>T
c.761+2661C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76197760
chr5:76197768 A
A
 T
T
 5 a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
others(2): Show 
a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
 5 HG01891.hp2
HG02818.hp2
HG02895.hp1
others(2): Show 
HG01891.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
NA19030.hp1
 intron_variant MODIFIER c.761+2669A>T
c.761+2669A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76197768
chr5:76197930 C
C
 G
G
 1 a0003c0004t0009g0017
a0003c0004t0009g0017
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.761+2831C>G
c.761+2831C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76197930
chr5:76197969 G
G
 A
A
 33 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(30): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0135g0198
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0007g0078
a0002c0003t0080g0084
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 33 HG00642.hp1
HG00642.hp2
HG00733.hp1
others(30): Show 
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG01074.hp1
HG01891.hp2
HG02083.hp1
HG02280.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG04199.hp2
NA18998.hp1
NA19007.hp1
NA19030.hp1
NA19081.hp2
NA19088.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+2870G>A
c.761+2870G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76197969
chr5:76198204 T
T
 G
G
 33 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(30): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0135g0198
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0007g0078
a0002c0003t0080g0084
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 33 HG00642.hp1
HG00642.hp2
HG00733.hp1
others(30): Show 
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG01074.hp1
HG01891.hp2
HG02083.hp1
HG02280.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG04199.hp2
NA18998.hp1
NA19007.hp1
NA19030.hp1
NA19081.hp2
NA19088.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+3105T>G
c.761+3105T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76198204
chr5:76198298 A
A
 G
G
 2 a0001c0001t0018g0044
a0001c0001t0051g0035
a0001c0001t0018g0044
a0001c0001t0051g0035
 2 HG04199.hp2
NA18998.hp1
HG04199.hp2
NA18998.hp1
 intron_variant MODIFIER c.761+3199A>G
c.761+3199A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76198298
chr5:76198509 G
G
 A
A
 34 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(31): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0135g0198
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0007t0007g0078
a0002c0003t0080g0084
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 34 HG00642.hp1
HG00642.hp2
HG00733.hp1
others(31): Show 
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG01074.hp1
HG01891.hp2
HG02083.hp1
HG02280.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG04199.hp2
NA18998.hp1
NA19007.hp1
NA19030.hp1
NA19081.hp2
NA19088.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+3410G>A
c.761+3410G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76198509
chr5:76198752 G
G
 A
A
 2 a0001c0001t0141g0013
a0001c0002t0025g0232
a0001c0001t0141g0013
a0001c0002t0025g0232
 2 HG02055.hp2
HG02809.hp1
HG02055.hp2
HG02809.hp1
 intron_variant MODIFIER c.761+3653G>A
c.761+3653G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76198752
chr5:76198940 T
T
 C
C
 130 a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0023
others(127): Show 
a0001c0001t0001g0031
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0177
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0025g0232
a0001c0002t0029g0146
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0045g0048
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0005c0011t0143g0015
a0007c0014t0005g0180
 130 HG00423.hp2
HG00558.hp1
HG00642.hp1
others(127): Show 
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG01074.hp1
HG01243.hp2
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+3841T>C
c.761+3841T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76198940
chr5:76199076 C
C
 T
T
 1 a0002c0006t0094g0142
a0002c0006t0094g0142
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.761+3977C>T
c.761+3977C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76199076
chr5:76199079 A
A
 G
G
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0141g0013
a0001c0002t0025g0232
a0002c0003t0080g0084
a0003c0004t0066g0086
 7 HG02055.hp2
HG02809.hp1
HG02886.hp1
others(4): Show 
HG02055.hp2
HG02809.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.761+3980A>G
c.761+3980A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76199079
chr5:76199143 CT
CT
 C
C
 5 a0001c0002t0102g0234
a0001c0002t0108g0120
a0003c0005t0030g0137
others(2): Show 
a0001c0002t0102g0234
a0001c0002t0108g0120
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
 5 HG00642.hp1
HG01074.hp1
HG02602.hp2
others(2): Show 
HG00642.hp1
HG01074.hp1
HG02602.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+4052delT
c.761+4052delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76199143
chr5:76199171 A
A
 C
C
 155 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(152): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0177
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0029g0146
a0001c0002t0037g0194
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0154g0197
a0001c0007t0007g0078
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0007c0014t0005g0180
 155 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(152): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+4072A>C
c.761+4072A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76199171
chr5:76199212 T
T
 G
G
 13 a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0009g0008
others(10): Show 
a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0009g0008
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0008t0002g0216
 13 HG00735.hp2
HG02055.hp1
HG02109.hp1
others(10): Show 
HG00735.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp1
HG02630.hp2
HG02970.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.761+4113T>G
c.761+4113T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76199212
chr5:76199329 T
T
 C
C
 16 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(13): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0007t0007g0078
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 16 HG00642.hp1
HG00642.hp2
HG00733.hp1
others(13): Show 
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG01074.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02922.hp2
HG03225.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+4230T>C
c.761+4230T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76199329
chr5:76199352 G
G
 C
C
 72 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(69): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0114g0125
a0001c0002t0154g0197
a0001c0007t0007g0078
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 72 HG00140.hp2
HG00423.hp1
HG00558.hp2
others(69): Show 
HG00140.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG01074.hp1
HG01243.hp2
HG01361.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp2
HG02083.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02735.hp2
HG02809.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18952.hp2
NA18966.hp2
NA18968.hp2
NA18975.hp1
NA18981.hp1
NA18990.hp1
NA18992.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+4253G>C
c.761+4253G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76199352
chr5:76199454 G
G
 A
A
 16 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(13): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0007t0007g0078
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 16 HG00642.hp1
HG00642.hp2
HG00733.hp1
others(13): Show 
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG01074.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02922.hp2
HG03225.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+4355G>A
c.761+4355G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76199454
chr5:76199502 G
G
 A
A
 1 a0002c0003t0059g0043
a0002c0003t0059g0043
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.761+4403G>A
c.761+4403G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76199502
chr5:76199524 C
C
 T
T
 175 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(172): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0177
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0007c0014t0005g0180
 175 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(172): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+4425C>T
c.761+4425C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76199524
chr5:76200024 T
T
 A
A
 175 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(172): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0177
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0007c0014t0005g0180
 175 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(172): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+4925T>A
c.761+4925T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76200024
chr5:76200076 C
C
 T
T
 2 a0001c0001t0141g0013
a0001c0002t0025g0232
a0001c0001t0141g0013
a0001c0002t0025g0232
 2 HG02055.hp2
HG02809.hp1
HG02055.hp2
HG02809.hp1
 intron_variant MODIFIER c.761+4977C>T
c.761+4977C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76200076
chr5:76200094 T
T
 G
G
 1 a0002c0006t0147g0195
a0002c0006t0147g0195
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.761+4995T>G
c.761+4995T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76200094
chr5:76200117 A
A
 G
G
 1 a0001c0001t0012g0223
a0001c0001t0012g0223
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.761+5018A>G
c.761+5018A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76200117
chr5:76200169 C
C
 T
T
 2 a0002c0003t0129g0188
a0003c0004t0120g0005
a0002c0003t0129g0188
a0003c0004t0120g0005
 2 HG01243.hp2
HG03130.hp1
HG01243.hp2
HG03130.hp1
 intron_variant MODIFIER c.761+5070C>T
c.761+5070C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76200169
chr5:76200273 A
A
 G
G
 84 a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
others(81): Show 
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0006g0177
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0029g0146
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 84 HG00140.hp1
HG00280.hp1
HG00423.hp2
others(81): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00741.hp1
HG01109.hp2
HG01168.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp2
HG02257.hp1
HG02258.hp2
HG02451.hp2
HG02523.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.761+5174A>G
c.761+5174A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76200273
chr5:76200501 T
T
 C
C
 3 a0001c0002t0036g0014
a0001c0002t0154g0197
a0003c0004t0009g0017
a0001c0002t0036g0014
a0001c0002t0154g0197
a0003c0004t0009g0017
 3 HG00140.hp2
HG02717.hp2
NA20129.hp2
HG00140.hp2
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.761+5402T>C
c.761+5402T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76200501
chr5:76200661 A
A
 G
G
 82 a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
others(79): Show 
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0006g0177
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0029g0146
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 82 HG00140.hp1
HG00280.hp1
HG00423.hp2
others(79): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00741.hp1
HG01109.hp2
HG01168.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp2
HG02257.hp1
HG02451.hp2
HG02523.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.761+5562A>G
c.761+5562A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76200661
chr5:76200667 T
T
 A
A
 1 a0002c0006t0034g0168
a0002c0006t0034g0168
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.761+5568T>A
c.761+5568T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76200667
chr5:76200689 G
G
 T
T
 18 a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
others(15): Show 
a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0216
 18 HG00735.hp2
HG02055.hp1
HG02109.hp1
others(15): Show 
HG00735.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02486.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.761+5590G>T
c.761+5590G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76200689
chr5:76200916 T
T
 A
A
 2 a0001c0001t0005g0099
a0001c0001t0056g0069
a0001c0001t0005g0099
a0001c0001t0056g0069
 2 NA19011.hp2
NA19056.hp1
NA19011.hp2
NA19056.hp1
 intron_variant MODIFIER c.761+5817T>A
c.761+5817T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76200916
chr5:76201072 T
T
 C
C
 5 a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
others(2): Show 
a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
 5 HG01891.hp2
HG02818.hp2
HG02895.hp1
others(2): Show 
HG01891.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
NA19030.hp1
 intron_variant MODIFIER c.761+5973T>C
c.761+5973T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76201072
chr5:76201176 A
A
 C
C
 2 a0001c0001t0141g0013
a0001c0002t0025g0232
a0001c0001t0141g0013
a0001c0002t0025g0232
 2 HG02055.hp2
HG02809.hp1
HG02055.hp2
HG02809.hp1
 intron_variant MODIFIER c.761+6077A>C
c.761+6077A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76201176
chr5:76201278 C
C
 T
T
 4 a0001c0002t0036g0176
a0001c0002t0146g0175
a0001c0002t0152g0199
others(1): Show 
a0001c0002t0036g0176
a0001c0002t0146g0175
a0001c0002t0152g0199
a0001c0002t0153g0200
 4 HG00733.hp2
HG01256.hp1
HG01258.hp2
others(1): Show 
HG00733.hp2
HG01256.hp1
HG01258.hp2
NA20805.hp1
 intron_variant MODIFIER c.761+6179C>T
c.761+6179C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76201278
chr5:76201318 G
G
 T
T
 5 a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0002t0006g0192
others(2): Show 
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0002t0006g0192
a0001c0002t0035g0178
a0003c0005t0116g0126
 5 HG00738.hp1
HG01123.hp2
HG01255.hp2
others(2): Show 
HG00738.hp1
HG01123.hp2
HG01255.hp2
HG02145.hp2
HG02280.hp1
 intron_variant MODIFIER c.761+6219G>T
c.761+6219G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76201318
chr5:76201345 T
T
 C
C
 2 a0002c0003t0129g0188
a0003c0004t0120g0005
a0002c0003t0129g0188
a0003c0004t0120g0005
 2 HG01243.hp2
HG03130.hp1
HG01243.hp2
HG03130.hp1
 intron_variant MODIFIER c.761+6246T>C
c.761+6246T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76201345
chr5:76201400 C
C
 T
T
 1 a0001c0001t0082g0220
a0001c0001t0082g0220
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.761+6301C>T
c.761+6301C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76201400
chr5:76201479 A
A
 G
G
 3 a0001c0001t0040g0070
a0001c0001t0042g0072
a0003c0004t0057g0071
a0001c0001t0040g0070
a0001c0001t0042g0072
a0003c0004t0057g0071
 3 HG01884.hp1
HG02630.hp1
HG03195.hp1
HG01884.hp1
HG02630.hp1
HG03195.hp1
 intron_variant MODIFIER c.761+6380A>G
c.761+6380A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76201479
chr5:76201542 T
T
 C
C
 1 a0003c0004t0045g0048
a0003c0004t0045g0048
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.761+6443T>C
c.761+6443T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76201542
chr5:76201746 C
C
 T
T
 5 a0001c0002t0036g0014
a0001c0002t0154g0197
a0002c0003t0129g0188
others(2): Show 
a0001c0002t0036g0014
a0001c0002t0154g0197
a0002c0003t0129g0188
a0003c0004t0009g0017
a0003c0004t0120g0005
 5 HG00140.hp2
HG01243.hp2
HG02717.hp2
others(2): Show 
HG00140.hp2
HG01243.hp2
HG02717.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.761+6647C>T
c.761+6647C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76201746
chr5:76201806 C
C
 G
G
 1 a0001c0001t0022g0108
a0001c0001t0022g0108
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.761+6707C>G
c.761+6707C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76201806
chr5:76201948 G
G
 A
A
 2 a0002c0003t0129g0188
a0003c0004t0120g0005
a0002c0003t0129g0188
a0003c0004t0120g0005
 2 HG01243.hp2
HG03130.hp1
HG01243.hp2
HG03130.hp1
 intron_variant MODIFIER c.761+6849G>A
c.761+6849G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76201948
chr5:76201968 C
C
 T
T
 1 a0001c0002t0006g0192
a0001c0002t0006g0192
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.761+6869C>T
c.761+6869C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76201968
chr5:76202015 C
C
 CA
CA
 82 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0054
others(79): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0006g0177
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0002t0154g0197
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 82 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(79): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00741.hp1
HG01109.hp2
HG01243.hp2
HG01258.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp2
HG02257.hp1
HG02451.hp2
HG02523.hp2
HG02572.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02896.hp1
HG02970.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03834.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.761+6937dupA
c.761+6937dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76202015
chr5:76202015 C
C
 CAA
CAA
 39 a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0058
others(36): Show 
a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0023g0131
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0090g0106
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0114g0125
a0001c0009t0031g0184
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0124g0183
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0030g0118
 39 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(36): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01361.hp2
HG01433.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02735.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03195.hp1
HG03209.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp2
NA18968.hp2
NA18975.hp1
NA18990.hp1
NA19005.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.761+6936_761+6937d
others(4): Show 
c.761+6936_761+6937dupAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76202015
chr5:76202015 C
C
 CAAA
CAAA
 6 a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0077g0212
others(3): Show 
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0089g0081
a0003c0004t0058g0051
 6 HG02083.hp1
HG02523.hp1
NA19001.hp2
others(3): Show 
HG02083.hp1
HG02523.hp1
NA19001.hp2
NA19007.hp1
NA19030.hp2
NA19088.hp1
 intron_variant MODIFIER c.761+6935_761+6937d
others(5): Show 
c.761+6935_761+6937dupAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76202015
chr5:76202015 CA
CA
 C
C
 18 a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
others(15): Show 
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0141g0013
a0001c0002t0025g0232
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0007t0007g0078
a0002c0003t0044g0074
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 18 HG00642.hp1
HG00642.hp2
HG01074.hp1
others(15): Show 
HG00642.hp1
HG00642.hp2
HG01074.hp1
HG02055.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp1
HG03225.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+6937delA
c.761+6937delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76202015
chr5:76202033 A
A
 G
G
 1 a0001c0001t0004g0080
a0001c0001t0004g0080
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.761+6934A>G
c.761+6934A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76202033
chr5:76202042 A
A
 C
C
 1 a0001c0001t0003g0167
a0001c0001t0003g0167
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.761+6943A>C
c.761+6943A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76202042
chr5:76202066 G
G
 T
T
 1 a0001c0001t0137g0159
a0001c0001t0137g0159
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.761+6967G>T
c.761+6967G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76202066
chr5:76202149 G
G
 C
C
 32 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
others(29): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0090g0106
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0064g0038
a0001c0002t0114g0125
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0067g0109
a0003c0004t0057g0071
a0003c0004t0091g0107
 32 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(29): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01361.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02735.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18952.hp2
NA18966.hp2
NA18968.hp2
NA18975.hp1
NA18990.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.761+7050G>C
c.761+7050G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76202149
chr5:76202188 G
G
 GT
GT
 17 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(14): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0007t0007g0078
a0002c0003t0044g0074
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 17 HG00642.hp1
HG00642.hp2
HG00733.hp1
others(14): Show 
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG01074.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02922.hp2
HG03225.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+7090dupT
c.761+7090dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76202188
chr5:76202282 T
T
 G
G
 1 a0001c0002t0097g0114
a0001c0002t0097g0114
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.761+7183T>G
c.761+7183T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76202282
chr5:76202370 G
G
 T
T
 17 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(14): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0007t0007g0078
a0002c0003t0044g0074
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 17 HG00642.hp1
HG00642.hp2
HG00733.hp1
others(14): Show 
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG01074.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02922.hp2
HG03225.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.761+7271G>T
c.761+7271G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76202370
chr5:76202583 A
A
 G
G
 1 a0003c0004t0012g0222
a0003c0004t0012g0222
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.762-7153A>G
c.762-7153A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76202583
chr5:76203246 C
C
 G
G
 83 a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
others(80): Show 
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0006g0177
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0029g0146
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 83 HG00140.hp1
HG00280.hp1
HG00423.hp2
others(80): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00741.hp1
HG01109.hp2
HG01168.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp2
HG02257.hp1
HG02258.hp2
HG02451.hp2
HG02523.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.762-6490C>G
c.762-6490C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76203246
chr5:76203272 C
C
 T
T
 1 a0001c0001t0011g0040
a0001c0001t0011g0040
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.762-6464C>T
c.762-6464C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76203272
chr5:76203497 A
A
 G
G
 1 a0001c0002t0144g0155
a0001c0002t0144g0155
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.762-6239A>G
c.762-6239A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76203497
chr5:76203603 C
C
 G
G
 1 a0002c0006t0094g0142
a0002c0006t0094g0142
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.762-6133C>G
c.762-6133C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76203603
chr5:76203763 C
C
 T
T
 3 a0001c0001t0013g0085
a0002c0003t0080g0084
a0003c0004t0066g0086
a0001c0001t0013g0085
a0002c0003t0080g0084
a0003c0004t0066g0086
 3 HG02886.hp1
HG02895.hp2
HG03209.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
 intron_variant MODIFIER c.762-5973C>T
c.762-5973C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76203763
chr5:76203836 G
G
 A
A
 23 a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
others(20): Show 
a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0216
 23 HG00735.hp2
HG01891.hp2
HG02055.hp1
others(20): Show 
HG00735.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02486.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
NA19030.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.762-5900G>A
c.762-5900G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76203836
chr5:76204265 G
G
 A
A
 3 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
 3 HG00280.hp2
HG00738.hp2
HG01433.hp2
HG00280.hp2
HG00738.hp2
HG01433.hp2
 intron_variant MODIFIER c.762-5471G>A
c.762-5471G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76204265
chr5:76204389 G
G
 A
A
 1 a0002c0006t0095g0091
a0002c0006t0095g0091
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.762-5347G>A
c.762-5347G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76204389
chr5:76204434 G
G
 T
T
 2 a0002c0003t0129g0188
a0003c0004t0120g0005
a0002c0003t0129g0188
a0003c0004t0120g0005
 2 HG01243.hp2
HG03130.hp1
HG01243.hp2
HG03130.hp1
 intron_variant MODIFIER c.762-5302G>T
c.762-5302G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76204434
chr5:76204456 A
A
 C
C
 1 a0001c0002t0009g0186
a0001c0002t0009g0186
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.762-5280A>C
c.762-5280A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76204456
chr5:76204706 C
C
 A
A
 3 a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 3 HG00733.hp1
HG02572.hp2
NA21309.hp2
HG00733.hp1
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.762-5030C>A
c.762-5030C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76204706
chr5:76204864 T
T
 C
C
 1 a0001c0002t0093g0205
a0001c0002t0093g0205
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.762-4872T>C
c.762-4872T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76204864
chr5:76204879 C
C
 T
T
 5 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(2): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0003c0004t0019g0145
a0003c0004t0058g0051
 5 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(2): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.762-4857C>T
c.762-4857C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76204879
chr5:76204951 A
A
 C
C
 2 a0001c0001t0141g0013
a0001c0002t0025g0232
a0001c0001t0141g0013
a0001c0002t0025g0232
 2 HG02055.hp2
HG02809.hp1
HG02055.hp2
HG02809.hp1
 intron_variant MODIFIER c.762-4785A>C
c.762-4785A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76204951
chr5:76205134 A
A
 G
G
 2 a0002c0003t0129g0188
a0003c0004t0120g0005
a0002c0003t0129g0188
a0003c0004t0120g0005
 2 HG01243.hp2
HG03130.hp1
HG01243.hp2
HG03130.hp1
 intron_variant MODIFIER c.762-4602A>G
c.762-4602A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76205134
chr5:76205148 C
C
 CGT
CGT
 37 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
others(34): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0068g0092
a0001c0001t0090g0106
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0114g0125
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0067g0109
a0003c0004t0009g0017
a0003c0004t0057g0071
a0003c0004t0091g0107
 37 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(34): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01361.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02717.hp2
HG02735.hp2
HG02896.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18952.hp2
NA18966.hp2
NA18968.hp2
NA18975.hp1
NA18990.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19030.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.762-4569_762-4568d
others(4): Show 
c.762-4569_762-4568dupGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76205148
chr5:76205148 C
C
 CGTGTGT
CGTGTGT
 4 a0001c0001t0013g0085
a0001c0001t0065g0233
a0002c0003t0080g0084
others(1): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0002c0003t0080g0084
a0003c0004t0066g0086
 4 HG02886.hp1
HG02895.hp2
HG03209.hp2
others(1): Show 
HG02886.hp1
HG02895.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.762-4573_762-4568d
others(8): Show 
c.762-4573_762-4568dupGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76205148
chr5:76205148 CGT
CGT
 C
C
 33 a0001c0001t0003g0096
a0001c0001t0003g0165
a0001c0001t0003g0171
others(30): Show 
a0001c0001t0003g0096
a0001c0001t0003g0165
a0001c0001t0003g0171
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0075g0115
a0001c0001t0123g0002
a0001c0001t0135g0198
a0001c0002t0020g0042
a0001c0002t0029g0146
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0155g0149
a0007c0014t0005g0180
 33 HG00423.hp2
HG00741.hp1
HG01496.hp1
others(30): Show 
HG00423.hp2
HG00741.hp1
HG01496.hp1
HG01496.hp2
HG01943.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG03704.hp2
HG03834.hp2
HG04199.hp2
HG04228.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19005.hp1
NA19030.hp1
NA19056.hp2
NA19072.hp1
NA19072.hp2
NA19081.hp1
NA20300.hp2
 intron_variant MODIFIER c.762-4569_762-4568d
others(4): Show 
c.762-4569_762-4568delGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76205148
chr5:76205644 G
G
 A
A
 1 a0001c0001t0132g0009
a0001c0001t0132g0009
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.762-4092G>A
c.762-4092G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76205644
chr5:76205766 CA
CA
 C
C
 23 a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
others(20): Show 
a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0216
 23 HG00735.hp2
HG01891.hp2
HG02055.hp1
others(20): Show 
HG00735.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02486.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
NA19030.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.762-3966delA
c.762-3966delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76205766
chr5:76205828 G
G
 A
A
 23 a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
others(20): Show 
a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0216
 23 HG00735.hp2
HG01891.hp2
HG02055.hp1
others(20): Show 
HG00735.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02486.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
NA19030.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.762-3908G>A
c.762-3908G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76205828
chr5:76205861 T
T
 C
C
 2 a0002c0003t0129g0188
a0003c0004t0120g0005
a0002c0003t0129g0188
a0003c0004t0120g0005
 2 HG01243.hp2
HG03130.hp1
HG01243.hp2
HG03130.hp1
 intron_variant MODIFIER c.762-3875T>C
c.762-3875T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76205861
chr5:76206067 TAAAC
TAAAC
 T
T
 4 a0001c0001t0009g0190
a0001c0001t0132g0009
a0001c0002t0100g0206
others(1): Show 
a0001c0001t0009g0190
a0001c0001t0132g0009
a0001c0002t0100g0206
a0003c0004t0026g0147
 4 HG01884.hp2
HG02572.hp1
HG02723.hp1
others(1): Show 
HG01884.hp2
HG02572.hp1
HG02723.hp1
HG02809.hp2
 intron_variant MODIFIER c.762-3661_762-3658d
others(6): Show 
c.762-3661_762-3658delCAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76206067
chr5:76206075 C
C
 CA
CA
 23 a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
others(20): Show 
a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0216
 23 HG00735.hp2
HG01891.hp2
HG02055.hp1
others(20): Show 
HG00735.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02486.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
NA19030.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.762-3655dupA
c.762-3655dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76206075
chr5:76206175 G
G
 A
A
 1 a0001c0001t0017g0034
a0001c0001t0017g0034
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.762-3561G>A
c.762-3561G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76206175
chr5:76206236 C
C
 A
A
 2 a0002c0003t0129g0188
a0003c0004t0120g0005
a0002c0003t0129g0188
a0003c0004t0120g0005
 2 HG01243.hp2
HG03130.hp1
HG01243.hp2
HG03130.hp1
 intron_variant MODIFIER c.762-3500C>A
c.762-3500C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76206236
chr5:76206297 C
C
 T
T
 38 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
others(35): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0090g0106
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
 38 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(35): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01361.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02735.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03195.hp1
HG03209.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18966.hp2
NA18968.hp2
NA18975.hp1
NA18990.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19030.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.762-3439C>T
c.762-3439C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76206297
chr5:76206431 G
G
 A
A
 1 a0003c0004t0026g0147
a0003c0004t0026g0147
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.762-3305G>A
c.762-3305G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76206431
chr5:76206517 T
T
 G
G
 23 a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
others(20): Show 
a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0216
 23 HG00735.hp2
HG01891.hp2
HG02055.hp1
others(20): Show 
HG00735.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02486.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
NA19030.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.762-3219T>G
c.762-3219T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76206517
chr5:76206518 C
C
 T
T
 23 a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
others(20): Show 
a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0216
 23 HG00735.hp2
HG01891.hp2
HG02055.hp1
others(20): Show 
HG00735.hp2
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02486.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
NA19030.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.762-3218C>T
c.762-3218C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76206518
chr5:76206585 G
G
 C
C
 173 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(170): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0177
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0007c0014t0005g0180
 173 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(170): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.762-3151G>C
c.762-3151G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76206585
chr5:76206626 C
C
 A
A
 1 a0001c0007t0007g0078
a0001c0007t0007g0078
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.762-3110C>A
c.762-3110C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76206626
chr5:76206645 T
T
 C
C
 3 a0001c0001t0125g0007
a0001c0001t0128g0006
a0002c0008t0002g0216
a0001c0001t0125g0007
a0001c0001t0128g0006
a0002c0008t0002g0216
 3 HG02055.hp1
HG02630.hp2
HG03098.hp2
HG02055.hp1
HG02630.hp2
HG03098.hp2
 intron_variant MODIFIER c.762-3091T>C
c.762-3091T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76206645
chr5:76206670 G
G
 A
A
 1 a0001c0002t0154g0197
a0001c0002t0154g0197
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.762-3066G>A
c.762-3066G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76206670
chr5:76206671 C
C
 T
T
 1 a0003c0005t0030g0118
a0003c0005t0030g0118
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.762-3065C>T
c.762-3065C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76206671
chr5:76206888 G
G
 A
A
 3 a0001c0001t0090g0106
a0001c0001t0137g0159
a0003c0004t0091g0107
a0001c0001t0090g0106
a0001c0001t0137g0159
a0003c0004t0091g0107
 3 HG00735.hp1
HG01981.hp1
HG02300.hp1
HG00735.hp1
HG01981.hp1
HG02300.hp1
 intron_variant MODIFIER c.762-2848G>A
c.762-2848G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76206888
chr5:76207030 C
C
 A
A
 155 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(152): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0177
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 155 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(152): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp2
HG01258.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.762-2706C>A
c.762-2706C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76207030
chr5:76207165 C
C
 CA
CA
 140 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(137): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0177
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0029g0146
a0001c0002t0037g0194
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 140 HG00140.hp1
HG00280.hp1
HG00423.hp1
others(137): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01109.hp2
HG01168.hp1
HG01258.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.762-2559dupA
c.762-2559dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 INFO_REALIGN_3_PRIME chr5 76207165
chr5:76207421 G
G
 A
A
 126 a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
others(123): Show 
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0177
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0025g0232
a0001c0002t0029g0146
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0007c0014t0005g0180
 126 HG00140.hp1
HG00280.hp1
HG00423.hp2
others(123): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.762-2315G>A
c.762-2315G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76207421
chr5:76207480 G
G
 A
A
 1 a0001c0001t0004g0080
a0001c0001t0004g0080
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.762-2256G>A
c.762-2256G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76207480
chr5:76208145 T
T
 C
C
 3 a0001c0001t0001g0027
a0001c0002t0064g0038
a0002c0003t0001g0026
a0001c0001t0001g0027
a0001c0002t0064g0038
a0002c0003t0001g0026
 3 HG04228.hp2
NA18966.hp2
NA19011.hp1
HG04228.hp2
NA18966.hp2
NA19011.hp1
 intron_variant MODIFIER c.762-1591T>C
c.762-1591T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76208145
chr5:76208198 A
A
 G
G
 1 a0003c0005t0155g0149
a0003c0005t0155g0149
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.762-1538A>G
c.762-1538A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76208198
chr5:76208253 G
G
 T
T
 5 a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
others(2): Show 
a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
 5 HG01891.hp2
HG02818.hp2
HG02895.hp1
others(2): Show 
HG01891.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
NA19030.hp1
 intron_variant MODIFIER c.762-1483G>T
c.762-1483G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76208253
chr5:76208418 C
C
 T
T
 19 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(16): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0141g0013
a0001c0002t0025g0232
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0007t0007g0078
a0002c0003t0044g0074
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 19 HG00642.hp1
HG00642.hp2
HG00733.hp1
others(16): Show 
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG01074.hp1
HG02055.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02809.hp1
HG02922.hp2
HG03225.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.762-1318C>T
c.762-1318C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76208418
chr5:76209066 A
A
 G
G
 1 a0002c0008t0002g0216
a0002c0008t0002g0216
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.762-670A>G
c.762-670A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76209066
chr5:76209116 A
A
 C
C
 5 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(2): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0003c0004t0019g0145
a0003c0004t0058g0051
 5 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(2): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.762-620A>C
c.762-620A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 3/12 chr5 76209116
chr5:76210122 G
G
 A
A
 66 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
others(63): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0008t0002g0216
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
 66 HG00140.hp2
HG00423.hp1
HG00558.hp2
others(63): Show 
HG00140.hp2
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG01243.hp2
HG01361.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18966.hp2
NA18968.hp2
NA18975.hp1
NA18990.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.913+235G>A
c.913+235G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76210122
chr5:76210125 G
G
 A
A
 231 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(228): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 231 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(228): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+238G>A
c.913+238G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76210125
chr5:76210128 C
C
 A
A
 5 a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
others(2): Show 
a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
 5 HG01891.hp2
HG02818.hp2
HG02895.hp1
others(2): Show 
HG01891.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
NA19030.hp1
 intron_variant MODIFIER c.913+241C>A
c.913+241C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76210128
chr5:76210192 C
C
 T
T
 155 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(152): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 155 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(152): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.913+305C>T
c.913+305C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76210192
chr5:76210281 A
A
 C
C
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.913+394A>C
c.913+394A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76210281
chr5:76210283 G
G
 A
A
 31 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
others(28): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0090g0106
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0064g0038
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0067g0109
a0003c0004t0057g0071
a0003c0004t0091g0107
 31 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(28): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01361.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02735.hp2
HG03195.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18966.hp2
NA18968.hp2
NA18975.hp1
NA18990.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.913+396G>A
c.913+396G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76210283
chr5:76210372 C
C
 G
G
 110 a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
others(107): Show 
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0025g0232
a0001c0002t0029g0146
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0007g0078
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0007c0014t0005g0180
 110 HG00140.hp1
HG00280.hp1
HG00423.hp2
others(107): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00741.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01258.hp1
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+485C>G
c.913+485C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76210372
chr5:76210446 C
C
 G
G
 7 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(4): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0009g0186
a0001c0002t0089g0081
a0002c0003t0080g0084
a0003c0004t0066g0086
 7 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(4): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.913+559C>G
c.913+559C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76210446
chr5:76210613 T
T
 A
A
 1 a0001c0001t0004g0080
a0001c0001t0004g0080
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.913+726T>A
c.913+726T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76210613
chr5:76210697 G
G
 C
C
 49 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
others(46): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0114g0125
a0001c0002t0154g0197
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0129g0188
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
 49 HG00140.hp2
HG00423.hp1
HG00558.hp2
others(46): Show 
HG00140.hp2
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01243.hp2
HG01361.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02083.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18952.hp2
NA18966.hp2
NA18968.hp2
NA18975.hp1
NA18990.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.913+810G>C
c.913+810G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76210697
chr5:76210825 C
C
 T
T
 67 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
others(64): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0114g0125
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0008t0002g0216
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
 67 HG00140.hp2
HG00423.hp1
HG00558.hp2
others(64): Show 
HG00140.hp2
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG00735.hp2
HG01243.hp2
HG01361.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18952.hp2
NA18966.hp2
NA18968.hp2
NA18975.hp1
NA18990.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.913+938C>T
c.913+938C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76210825
chr5:76210860 G
G
 A
A
 2 a0001c0002t0036g0014
a0003c0004t0009g0017
a0001c0002t0036g0014
a0003c0004t0009g0017
 2 HG02717.hp2
NA20129.hp2
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+973G>A
c.913+973G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76210860
chr5:76210862 C
C
 T
T
 1 a0001c0001t0083g0204
a0001c0001t0083g0204
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.913+975C>T
c.913+975C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76210862
chr5:76210894 A
A
 G
G
 2 a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0037g0194
a0001c0002t0105g0117
 2 HG01109.hp2
HG01515.hp2
HG01109.hp2
HG01515.hp2
 intron_variant MODIFIER c.913+1007A>G
c.913+1007A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76210894
chr5:76211006 G
G
 C
C
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.913+1119G>C
c.913+1119G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76211006
chr5:76211273 T
T
 G
G
 3 a0001c0001t0040g0070
a0001c0001t0042g0072
a0003c0004t0057g0071
a0001c0001t0040g0070
a0001c0001t0042g0072
a0003c0004t0057g0071
 3 HG01884.hp1
HG02630.hp1
HG03195.hp1
HG01884.hp1
HG02630.hp1
HG03195.hp1
 intron_variant MODIFIER c.913+1386T>G
c.913+1386T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76211273
chr5:76211463 C
C
 CGT
CGT
 2 a0001c0002t0037g0154
a0002c0003t0080g0084
a0001c0002t0037g0154
a0002c0003t0080g0084
 2 HG01106.hp2
HG03209.hp2
HG01106.hp2
HG03209.hp2
 intron_variant MODIFIER c.913+1611_913+1612d
others(4): Show 
c.913+1611_913+1612dupGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76211463
chr5:76211463 CGT
CGT
 C
C
 75 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
others(72): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0024
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0012g0083
a0001c0001t0023g0102
a0001c0001t0031g0179
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0090g0106
a0001c0001t0122g0011
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0013g0082
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0111g0133
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0039g0062
a0003c0004t0057g0071
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0004c0010t0027g0111
a0005c0011t0143g0015
 75 HG00280.hp2
HG00423.hp1
HG00642.hp1
others(72): Show 
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp2
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03540.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp2
NA18966.hp2
NA18975.hp1
NA18990.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19030.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+1611_913+1612d
others(4): Show 
c.913+1611_913+1612delGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76211463
chr5:76211463 CGTGT
CGTGT
 C
C
 10 a0001c0001t0007g0093
a0001c0001t0073g0089
a0001c0001t0084g0090
others(7): Show 
a0001c0001t0007g0093
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0002t0102g0234
a0001c0007t0007g0078
a0002c0003t0086g0088
a0002c0003t0129g0188
a0003c0004t0026g0147
a0003c0004t0045g0048
 10 HG01243.hp2
HG02258.hp2
HG02572.hp1
others(7): Show 
HG01243.hp2
HG02258.hp2
HG02572.hp1
HG02572.hp2
HG02717.hp1
HG03041.hp2
HG03225.hp2
NA19240.hp1
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+1609_913+1612d
others(6): Show 
c.913+1609_913+1612delGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76211463
chr5:76211463 CGTGTGT
CGTGTGT
 C
C
 47 a0001c0001t0001g0031
a0001c0001t0003g0096
a0001c0001t0003g0165
others(44): Show 
a0001c0001t0001g0031
a0001c0001t0003g0096
a0001c0001t0003g0165
a0001c0001t0003g0171
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0002t0020g0042
a0001c0002t0029g0146
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0154g0197
a0001c0013t0014g0119
a0002c0003t0124g0183
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 47 HG00140.hp2
HG00280.hp1
HG00423.hp2
others(44): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00741.hp1
HG01168.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01943.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02523.hp1
HG03130.hp1
HG03704.hp2
HG03834.hp2
HG04199.hp2
HG04228.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19007.hp1
NA19043.hp1
NA19056.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19081.hp1
NA19081.hp2
NA19088.hp1
NA20300.hp2
 intron_variant MODIFIER c.913+1607_913+1612d
others(8): Show 
c.913+1607_913+1612delGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76211463
chr5:76211463 CGTGTGTG
others(1): Show 
CGTGTGTGT
 C
C
 56 a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0002g0023
others(53): Show 
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0056g0069
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0121g0097
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0110g0124
a0001c0002t0144g0155
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0015t0079g0087
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0034g0168
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0038g0066
a0003c0005t0034g0173
 56 HG00140.hp1
HG00558.hp1
HG00733.hp1
others(53): Show 
HG00140.hp1
HG00558.hp1
HG00733.hp1
HG00735.hp2
HG01109.hp2
HG01258.hp1
HG01515.hp2
HG01928.hp2
HG01943.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG04199.hp1
HG04204.hp2
NA18945.hp1
NA18960.hp1
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA19001.hp1
NA19007.hp2
NA19011.hp2
NA19043.hp2
NA19056.hp1
NA19079.hp2
NA19083.hp1
NA19083.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+1605_913+1612d
others(10): Show 
c.913+1605_913+1612delGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76211463
chr5:76211463 CGTGTGTG
others(3): Show 
CGTGTGTGTGT
 C
C
 5 a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
others(2): Show 
a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
 5 HG01891.hp2
HG02818.hp2
HG02895.hp1
others(2): Show 
HG01891.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
NA19030.hp1
 intron_variant MODIFIER c.913+1603_913+1612d
others(12): Show 
c.913+1603_913+1612delGTGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76211463
chr5:76211746 T
T
 A
A
 1 a0001c0001t0047g0046
a0001c0001t0047g0046
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.913+1859T>A
c.913+1859T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76211746
chr5:76211816 C
C
 A
A
 47 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
others(44): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0114g0125
a0001c0002t0154g0197
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
 47 HG00140.hp2
HG00423.hp1
HG00558.hp2
others(44): Show 
HG00140.hp2
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01361.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02083.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02602.hp1
HG02630.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03195.hp1
HG03209.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18952.hp2
NA18966.hp2
NA18968.hp2
NA18975.hp1
NA18990.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.913+1929C>A
c.913+1929C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76211816
chr5:76211832 G
G
 A
A
 2 a0001c0002t0093g0205
a0002c0003t0086g0088
a0001c0002t0093g0205
a0002c0003t0086g0088
 2 HG02717.hp1
NA19043.hp1
HG02717.hp1
NA19043.hp1
 intron_variant MODIFIER c.913+1945G>A
c.913+1945G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76211832
chr5:76211953 A
A
 G
G
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.913+2066A>G
c.913+2066A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76211953
chr5:76212097 A
A
 AT
AT
 17 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(14): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0012g0083
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0007t0007g0078
a0002c0003t0044g0074
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 17 HG00642.hp1
HG00642.hp2
HG00733.hp1
others(14): Show 
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG01074.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02922.hp2
HG03225.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+2222dupT
c.913+2222dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76212097
chr5:76212125 G
G
 A
A
 5 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(2): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0003c0004t0019g0145
a0003c0004t0058g0051
 5 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(2): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.913+2238G>A
c.913+2238G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76212125
chr5:76212136 C
C
 T
T
 1 a0001c0002t0006g0174
a0001c0002t0006g0174
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.913+2249C>T
c.913+2249C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76212136
chr5:76212141 A
A
 G
G
 5 a0001c0002t0102g0234
a0001c0002t0108g0120
a0003c0005t0030g0137
others(2): Show 
a0001c0002t0102g0234
a0001c0002t0108g0120
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
 5 HG00642.hp1
HG01074.hp1
HG02602.hp2
others(2): Show 
HG00642.hp1
HG01074.hp1
HG02602.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+2254A>G
c.913+2254A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76212141
chr5:76212157 G
G
 A
A
 1 a0001c0001t0003g0098
a0001c0001t0003g0098
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.913+2270G>A
c.913+2270G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76212157
chr5:76212451 C
C
 T
T
 5 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(2): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0003c0004t0019g0145
a0003c0004t0058g0051
 5 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(2): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.913+2564C>T
c.913+2564C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76212451
chr5:76212469 C
C
 CT
CT
 6 a0001c0001t0002g0094
a0001c0001t0007g0122
a0001c0007t0004g0075
others(3): Show 
a0001c0001t0002g0094
a0001c0001t0007g0122
a0001c0007t0004g0075
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0086g0088
 6 HG02486.hp1
HG02486.hp2
HG02717.hp1
others(3): Show 
HG02486.hp1
HG02486.hp2
HG02717.hp1
HG03195.hp2
NA19079.hp1
NA19084.hp2
 intron_variant MODIFIER c.913+2595dupT
c.913+2595dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76212469
chr5:76212494 A
A
 T
T
 3 a0001c0002t0036g0014
a0001c0002t0154g0197
a0003c0004t0009g0017
a0001c0002t0036g0014
a0001c0002t0154g0197
a0003c0004t0009g0017
 3 HG00140.hp2
HG02717.hp2
NA20129.hp2
HG00140.hp2
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+2607A>T
c.913+2607A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76212494
chr5:76212588 C
C
 A
A
 2 a0002c0003t0129g0188
a0003c0004t0120g0005
a0002c0003t0129g0188
a0003c0004t0120g0005
 2 HG01243.hp2
HG03130.hp1
HG01243.hp2
HG03130.hp1
 intron_variant MODIFIER c.913+2701C>A
c.913+2701C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76212588
chr5:76212671 C
C
 T
T
 1 a0001c0002t0100g0206
a0001c0002t0100g0206
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.913+2784C>T
c.913+2784C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76212671
chr5:76212690 T
T
 G
G
 1 a0002c0006t0147g0195
a0002c0006t0147g0195
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.913+2803T>G
c.913+2803T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76212690
chr5:76212725 G
G
 A
A
 81 a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
others(78): Show 
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0127
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0051g0035
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0029g0146
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 81 HG00140.hp1
HG00280.hp1
HG00423.hp2
others(78): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00741.hp1
HG01109.hp2
HG01168.hp1
HG01258.hp1
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp2
HG02257.hp1
HG02451.hp2
HG02523.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19043.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.913+2838G>A
c.913+2838G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76212725
chr5:76212851 G
G
 T
T
 2 a0002c0003t0129g0188
a0003c0004t0120g0005
a0002c0003t0129g0188
a0003c0004t0120g0005
 2 HG01243.hp2
HG03130.hp1
HG01243.hp2
HG03130.hp1
 intron_variant MODIFIER c.913+2964G>T
c.913+2964G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76212851
chr5:76212952 T
T
 G
G
 3 a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0008g0217
a0001c0001t0073g0089
a0001c0001t0084g0090
 3 HG00733.hp1
HG02572.hp2
NA21309.hp2
HG00733.hp1
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.913+3065T>G
c.913+3065T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76212952
chr5:76213026 C
C
 T
T
 10 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
others(7): Show 
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0002t0036g0176
a0001c0002t0101g0144
a0001c0002t0146g0175
a0001c0002t0152g0199
a0001c0002t0153g0200
 10 HG00280.hp2
HG00733.hp2
HG00738.hp2
others(7): Show 
HG00280.hp2
HG00733.hp2
HG00738.hp2
HG01074.hp2
HG01256.hp1
HG01258.hp2
HG01433.hp2
HG02735.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.913+3139C>T
c.913+3139C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76213026
chr5:76213027 G
G
 A
A
 1 a0002c0003t0026g0230
a0002c0003t0026g0230
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.913+3140G>A
c.913+3140G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76213027
chr5:76213048 G
G
 A
A
 18 a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
others(15): Show 
a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0216
 18 HG00735.hp2
HG02055.hp1
HG02109.hp1
others(15): Show 
HG00735.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02486.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.913+3161G>A
c.913+3161G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76213048
chr5:76213162 T
T
 C
C
 18 a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
others(15): Show 
a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0216
 18 HG00735.hp2
HG02055.hp1
HG02109.hp1
others(15): Show 
HG00735.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02486.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.913+3275T>C
c.913+3275T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76213162
chr5:76213408 T
T
 C
C
 102 a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
others(99): Show 
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0051g0035
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0029g0146
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 102 HG00140.hp1
HG00280.hp1
HG00423.hp2
others(99): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00735.hp2
HG00741.hp1
HG01109.hp2
HG01168.hp1
HG01258.hp1
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.913+3521T>C
c.913+3521T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76213408
chr5:76213618 C
C
 T
T
 175 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(172): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0007c0014t0005g0180
 175 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(172): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+3731C>T
c.913+3731C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76213618
chr5:76213674 T
T
 C
C
 2 a0001c0001t0088g0123
a0002c0003t0013g0226
a0001c0001t0088g0123
a0002c0003t0013g0226
 2 HG02451.hp2
HG02896.hp1
HG02451.hp2
HG02896.hp1
 intron_variant MODIFIER c.913+3787T>C
c.913+3787T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76213674
chr5:76213699 A
A
 G
G
 1 a0002c0008t0002g0216
a0002c0008t0002g0216
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.913+3812A>G
c.913+3812A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76213699
chr5:76213701 C
C
 T
T
 1 a0001c0002t0154g0197
a0001c0002t0154g0197
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.913+3814C>T
c.913+3814C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76213701
chr5:76213904 C
C
 G
G
 1 a0001c0002t0154g0197
a0001c0002t0154g0197
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.913+4017C>G
c.913+4017C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76213904
chr5:76213937 A
A
 G
G
 40 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
others(37): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0090g0106
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0114g0125
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
 40 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(37): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01361.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03195.hp1
HG03209.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18952.hp2
NA18966.hp2
NA18968.hp2
NA18975.hp1
NA18990.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19030.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.913+4050A>G
c.913+4050A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76213937
chr5:76214088 A
A
 ATG
ATG
 3 a0001c0002t0036g0014
a0001c0002t0154g0197
a0003c0004t0009g0017
a0001c0002t0036g0014
a0001c0002t0154g0197
a0003c0004t0009g0017
 3 HG00140.hp2
HG02717.hp2
NA20129.hp2
HG00140.hp2
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+4211_913+4212d
others(4): Show 
c.913+4211_913+4212dupGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76214088
chr5:76214160 G
G
 T
T
 1 a0001c0002t0036g0014
a0001c0002t0036g0014
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.913+4273G>T
c.913+4273G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76214160
chr5:76214226 G
G
 A
A
 18 a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
others(15): Show 
a0001c0001t0002g0023
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0008t0002g0216
 18 HG00735.hp2
HG02055.hp1
HG02109.hp1
others(15): Show 
HG00735.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02486.hp1
HG02486.hp2
HG02630.hp2
HG02647.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.913+4339G>A
c.913+4339G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76214226
chr5:76214485 C
C
 A
A
 1 a0001c0007t0007g0078
a0001c0007t0007g0078
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.913+4598C>A
c.913+4598C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76214485
chr5:76214694 T
T
 G
G
 1 a0003c0004t0120g0005
a0003c0004t0120g0005
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.913+4807T>G
c.913+4807T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76214694
chr5:76214918 A
A
 C
C
 6 a0001c0001t0003g0165
a0001c0001t0011g0056
a0003c0004t0016g0164
others(3): Show 
a0001c0001t0003g0165
a0001c0001t0011g0056
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0019g0060
 6 HG00741.hp1
HG01496.hp2
HG01943.hp1
others(3): Show 
HG00741.hp1
HG01496.hp2
HG01943.hp1
NA18968.hp1
NA19005.hp1
NA20300.hp2
 intron_variant MODIFIER c.913+5031A>C
c.913+5031A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76214918
chr5:76215089 G
G
 A
A
 2 a0001c0001t0001g0059
a0001c0001t0053g0045
a0001c0001t0001g0059
a0001c0001t0053g0045
 2 HG02602.hp1
HG03704.hp1
HG02602.hp1
HG03704.hp1
 intron_variant MODIFIER c.913+5202G>A
c.913+5202G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76215089
chr5:76215136 G
G
 T
T
 101 a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
others(98): Show 
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0051g0035
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0029g0146
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 101 HG00140.hp1
HG00280.hp1
HG00423.hp2
others(98): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00735.hp2
HG00741.hp1
HG01109.hp2
HG01168.hp1
HG01258.hp1
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.913+5249G>T
c.913+5249G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76215136
chr5:76215380 C
C
 T
T
 1 a0001c0002t0154g0197
a0001c0002t0154g0197
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.913+5493C>T
c.913+5493C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76215380
chr5:76215383 A
A
 G
G
 5 a0001c0001t0009g0190
a0001c0001t0122g0011
a0001c0001t0132g0009
others(2): Show 
a0001c0001t0009g0190
a0001c0001t0122g0011
a0001c0001t0132g0009
a0001c0002t0100g0206
a0003c0004t0026g0147
 5 HG01884.hp2
HG02572.hp1
HG02723.hp1
others(2): Show 
HG01884.hp2
HG02572.hp1
HG02723.hp1
HG02809.hp2
HG03041.hp1
 intron_variant MODIFIER c.913+5496A>G
c.913+5496A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76215383
chr5:76215627 C
C
 T
T
 1 a0005c0011t0143g0015
a0005c0011t0143g0015
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.913+5740C>T
c.913+5740C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76215627
chr5:76215879 G
G
 A
A
 10 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(7): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0002t0036g0014
a0001c0002t0154g0197
a0002c0003t0129g0188
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0120g0005
 10 HG00140.hp2
HG01243.hp2
HG02083.hp1
others(7): Show 
HG00140.hp2
HG01243.hp2
HG02083.hp1
HG02523.hp1
HG02717.hp2
HG03130.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+5992G>A
c.913+5992G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76215879
chr5:76215981 CTGATGCA
others(55): Show 
CTGATGCAAAGTAGACCTTGAGTGGGTCACTAAGGATTCTGGAAGGAAAT
CTGGAAGGATTCT
 C
C
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.913+6097_913+6158d
others(64): Show 
c.913+6097_913+6158delATGCAAAGTAGACCTTGAGTGGGTCACT
AAGGATTCTGGAAGGAAATCTGGAAGGATTCTTG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76215981
chr5:76216104 T
T
 C
C
 5 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(2): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
a0003c0004t0066g0086
 5 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(2): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.913+6217T>C
c.913+6217T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76216104
chr5:76216236 G
G
 A
A
 1 a0001c0001t0004g0080
a0001c0001t0004g0080
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.913+6349G>A
c.913+6349G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76216236
chr5:76216310 A
A
 C
C
 102 a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
others(99): Show 
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0051g0035
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0029g0146
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0007c0014t0005g0180
 102 HG00140.hp1
HG00280.hp1
HG00423.hp2
others(99): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00735.hp2
HG00741.hp1
HG01109.hp2
HG01168.hp1
HG01258.hp1
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.913+6423A>C
c.913+6423A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76216310
chr5:76216367 G
G
 C
C
 6 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(3): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0002c0003t0080g0084
a0003c0004t0066g0086
 6 HG02818.hp1
HG02886.hp1
HG02895.hp2
others(3): Show 
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.913+6480G>C
c.913+6480G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76216367
chr5:76216832 G
G
 C
C
 42 a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
others(39): Show 
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0121g0097
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0037g0194
a0001c0002t0097g0114
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0110g0124
a0001c0002t0144g0155
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0006t0034g0168
a0003c0004t0005g0161
a0003c0005t0156g0193
 42 HG00140.hp1
HG00280.hp1
HG00558.hp1
others(39): Show 
HG00140.hp1
HG00280.hp1
HG00558.hp1
HG01109.hp2
HG01168.hp1
HG01258.hp1
HG01433.hp1
HG01515.hp2
HG01928.hp2
HG01943.hp2
HG02056.hp1
HG02080.hp2
HG02451.hp2
HG02523.hp2
HG02647.hp2
HG02698.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG04199.hp1
HG04204.hp2
NA18945.hp1
NA18960.hp1
NA18992.hp1
NA18998.hp2
NA19001.hp1
NA19007.hp2
NA19011.hp2
NA19056.hp1
NA19060.hp2
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19083.hp1
NA19083.hp2
NA19091.hp2
NA20129.hp1
 intron_variant MODIFIER c.913+6945G>C
c.913+6945G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76216832
chr5:76217000 C
C
 T
T
 1 a0001c0002t0098g0113
a0001c0002t0098g0113
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.913+7113C>T
c.913+7113C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76217000
chr5:76217146 G
G
 T
T
 170 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(167): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0007c0014t0005g0180
 170 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(167): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+7259G>T
c.913+7259G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76217146
chr5:76217227 G
G
 A
A
 3 a0001c0002t0036g0014
a0001c0002t0154g0197
a0003c0004t0009g0017
a0001c0002t0036g0014
a0001c0002t0154g0197
a0003c0004t0009g0017
 3 HG00140.hp2
HG02717.hp2
NA20129.hp2
HG00140.hp2
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+7340G>A
c.913+7340G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76217227
chr5:76217285 C
C
 T
T
 5 a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
others(2): Show 
a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
 5 HG01891.hp2
HG02818.hp2
HG02895.hp1
others(2): Show 
HG01891.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
NA19030.hp1
 intron_variant MODIFIER c.913+7398C>T
c.913+7398C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76217285
chr5:76217522 G
G
 A
A
 1 a0001c0002t0029g0146
a0001c0002t0029g0146
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.913+7635G>A
c.913+7635G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76217522
chr5:76217570 C
C
 T
T
 128 a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
others(125): Show 
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0051g0035
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0045g0048
a0003c0004t0058g0051
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0007c0014t0005g0180
 128 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(125): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01258.hp1
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+7683C>T
c.913+7683C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76217570
chr5:76217716 C
C
 A
A
 1 a0001c0002t0110g0124
a0001c0002t0110g0124
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.913+7829C>A
c.913+7829C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76217716
chr5:76217850 C
C
 T
T
 40 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
others(37): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0013g0085
a0001c0001t0022g0108
a0001c0001t0023g0102
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0090g0106
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0114g0125
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0129g0188
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
 40 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(37): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01243.hp2
HG01361.hp2
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02300.hp1
HG02300.hp2
HG02602.hp1
HG02630.hp1
HG02735.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03195.hp1
HG03209.hp2
HG03486.hp1
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18952.hp2
NA18966.hp2
NA18968.hp2
NA18975.hp1
NA18990.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19030.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.913+7963C>T
c.913+7963C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76217850
chr5:76217892 A
A
 C
C
 1 a0002c0003t0001g0026
a0002c0003t0001g0026
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.913+8005A>C
c.913+8005A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76217892
chr5:76217927 A
A
 G
G
 5 a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
others(2): Show 
a0001c0001t0050g0041
a0001c0001t0135g0198
a0001c0002t0103g0148
a0001c0002t0107g0207
a0001c0002t0109g0209
 5 HG01891.hp2
HG02818.hp2
HG02895.hp1
others(2): Show 
HG01891.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
NA19030.hp1
 intron_variant MODIFIER c.913+8040A>G
c.913+8040A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76217927
chr5:76217930 G
G
 A
A
 5 a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
others(2): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0001c0001t0092g0211
a0003c0004t0019g0145
a0003c0004t0058g0051
 5 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(2): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
NA19088.hp1
 intron_variant MODIFIER c.913+8043G>A
c.913+8043G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76217930
chr5:76217998 C
C
 T
T
 1 a0001c0001t0004g0080
a0001c0001t0004g0080
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.913+8111C>T
c.913+8111C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76217998
chr5:76218184 G
G
 A
A
 1 a0001c0001t0005g0162
a0001c0001t0005g0162
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.913+8297G>A
c.913+8297G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76218184
chr5:76218212 A
A
 G
G
 58 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
others(55): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0171
a0001c0001t0004g0219
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0012g0083
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0064g0038
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0114g0125
a0001c0002t0154g0197
a0001c0007t0007g0078
a0001c0009t0031g0184
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 58 HG00140.hp2
HG00423.hp1
HG00558.hp2
others(55): Show 
HG00140.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG01074.hp1
HG01361.hp2
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02083.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02922.hp2
HG03195.hp2
HG03225.hp2
HG03704.hp1
HG04184.hp1
HG04228.hp2
NA18951.hp2
NA18952.hp2
NA18955.hp2
NA18966.hp2
NA18968.hp2
NA18975.hp1
NA18990.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+8325A>G
c.913+8325A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76218212
chr5:76218240 C
C
 T
T
 99 a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
others(96): Show 
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0051g0035
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0020g0042
a0001c0002t0029g0146
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
 99 HG00140.hp1
HG00280.hp1
HG00423.hp2
others(96): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00735.hp2
HG00741.hp1
HG01109.hp2
HG01168.hp1
HG01258.hp1
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03704.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19005.hp1
NA19007.hp2
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.913+8353C>T
c.913+8353C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76218240
chr5:76218363 C
C
 T
T
 2 a0001c0001t0003g0165
a0001c0001t0011g0056
a0001c0001t0003g0165
a0001c0001t0011g0056
 2 NA18968.hp1
NA19005.hp1
NA18968.hp1
NA19005.hp1
 intron_variant MODIFIER c.913+8476C>T
c.913+8476C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76218363
chr5:76218588 T
T
 C
C
 23 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
others(20): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0012g0083
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0002c0003t0044g0074
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 23 HG00140.hp2
HG00280.hp2
HG00642.hp1
others(20): Show 
HG00140.hp2
HG00280.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp2
HG01074.hp1
HG01433.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02735.hp1
HG02922.hp2
HG03225.hp2
NA19240.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+8701T>C
c.913+8701T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76218588
chr5:76218636 G
G
 C
C
 2 a0001c0001t0012g0083
a0005c0011t0143g0015
a0001c0001t0012g0083
a0005c0011t0143g0015
 2 HG02280.hp2
HG02615.hp2
HG02280.hp2
HG02615.hp2
 intron_variant MODIFIER c.913+8749G>C
c.913+8749G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76218636
chr5:76218641 T
T
 C
C
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
 intron_variant MODIFIER c.913+8754T>C
c.913+8754T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76218641
chr5:76218819 A
A
 ACACAGTG
others(33): Show 
ACACAGTGCCTGGCACAAATGTTCATTAAGTGTAGTCTTTG
 229 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(226): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 229 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(226): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+8969_913+8970i
others(42): Show 
c.913+8969_913+8970insTTGCACAGTGCCTGGCACAAATGTTCAT
TAAGTGTAGTCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76218819
chr5:76218819 A
A
 ACACAGTG
others(73): Show 
ACACAGTGCCTGGCACAAATGTTCATTAAGTGTAGTCTTTGCACAGTGCC
TGGCACAAATGTTCATTAAGTGTAGTCTTTG
 1 a0001c0002t0093g0205
a0001c0002t0093g0205
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.913+8969_913+8970i
others(82): Show 
c.913+8969_913+8970insTTGCACAGTGCCTGGCACAAATGTTCAT
TAAGTGTAGTCTTTGCACAGTGCCTGGCACAAATGTTCATTAAGTGTAGT
CT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76218819
chr5:76218853 G
G
 T
T
 1 a0001c0002t0037g0154
a0001c0002t0037g0154
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.913+8966G>T
c.913+8966G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76218853
chr5:76218990 T
T
 G
G
 4 a0001c0001t0022g0214
a0001c0001t0077g0212
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0001t0077g0212
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
HG02523.hp1
NA19007.hp1
others(1): Show 
HG02083.hp1
HG02523.hp1
NA19007.hp1
NA19081.hp2
 intron_variant MODIFIER c.913+9103T>G
c.913+9103T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76218990
chr5:76219161 C
C
 T
T
 123 a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
others(120): Show 
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 123 HG00140.hp2
HG00280.hp1
HG00558.hp1
others(120): Show 
HG00140.hp2
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp2
HG01433.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp1
NA18960.hp1
NA18975.hp1
NA18990.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+9274C>T
c.913+9274C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76219161
chr5:76219223 C
C
 T
T
 24 a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
others(21): Show 
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0022g0214
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0109g0209
a0001c0007t0007g0078
a0002c0003t0044g0074
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0095g0091
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0058g0051
 24 HG00733.hp1
HG01891.hp2
HG02083.hp1
others(21): Show 
HG00733.hp1
HG01891.hp2
HG02083.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02976.hp1
HG03225.hp2
HG03471.hp2
HG04204.hp1
NA19007.hp1
NA19030.hp2
NA19081.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+9336C>T
c.913+9336C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76219223
chr5:76219303 C
C
 T
T
 17 a0001c0001t0004g0080
a0001c0001t0012g0223
a0001c0001t0046g0050
others(14): Show 
a0001c0001t0004g0080
a0001c0001t0012g0223
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0050g0041
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0130g0010
a0001c0001t0141g0013
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0004g0079
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
 17 HG02055.hp1
HG02055.hp2
HG02145.hp1
others(14): Show 
HG02055.hp1
HG02055.hp2
HG02145.hp1
HG02258.hp1
HG02630.hp2
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03209.hp1
HG03471.hp1
NA19240.hp2
 intron_variant MODIFIER c.913+9416C>T
c.913+9416C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76219303
chr5:76219362 A
A
 G
G
 37 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(34): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0018g0044
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0132g0009
a0001c0002t0006g0174
a0001c0002t0020g0042
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0002c0003t0013g0226
a0002c0003t0072g0143
a0003c0004t0038g0066
 37 HG00140.hp1
HG00280.hp2
HG00423.hp2
others(34): Show 
HG00140.hp1
HG00280.hp2
HG00423.hp2
HG00738.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG02080.hp2
HG02109.hp2
HG02300.hp2
HG02523.hp2
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02896.hp1
HG02965.hp2
HG03195.hp1
HG03195.hp2
NA18945.hp1
NA18952.hp2
NA18955.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19011.hp2
NA19060.hp2
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19083.hp2
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.913+9475A>G
c.913+9475A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76219362
chr5:76219555 G
G
 A
A
 2 a0001c0001t0002g0023
a0001c0001t0048g0047
a0001c0001t0002g0023
a0001c0001t0048g0047
 2 HG00735.hp2
HG02109.hp1
HG00735.hp2
HG02109.hp1
 intron_variant MODIFIER c.913+9668G>A
c.913+9668G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76219555
chr5:76219669 G
G
 C
C
 41 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
others(38): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0007g0122
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0002t0009g0186
a0001c0002t0025g0232
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0004c0010t0027g0110
a0004c0010t0027g0111
 41 HG00140.hp2
HG00741.hp2
HG01106.hp1
others(38): Show 
HG00140.hp2
HG00741.hp2
HG01106.hp1
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02056.hp1
HG02083.hp1
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02886.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18955.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+9782G>C
c.913+9782G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76219669
chr5:76219679 C
C
 T
T
 34 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(31): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0002t0009g0186
a0001c0002t0025g0232
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0086g0088
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
 34 HG00140.hp2
HG01256.hp1
HG01258.hp2
others(31): Show 
HG00140.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02056.hp1
HG02083.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02886.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18955.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19081.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+9792C>T
c.913+9792C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76219679
chr5:76219710 C
C
 T
T
 1 a0001c0002t0006g0196
a0001c0002t0006g0196
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.913+9823C>T
c.913+9823C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76219710
chr5:76219768 C
C
 T
T
 2 a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0073g0089
a0001c0001t0084g0090
 2 HG02572.hp2
NA21309.hp2
HG02572.hp2
NA21309.hp2
 intron_variant MODIFIER c.913+9881C>T
c.913+9881C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76219768
chr5:76219911 C
C
 A
A
 7 a0001c0001t0004g0080
a0001c0001t0046g0050
a0001c0007t0004g0079
others(4): Show 
a0001c0001t0004g0080
a0001c0001t0046g0050
a0001c0007t0004g0079
a0002c0003t0071g0228
a0002c0003t0085g0215
a0004c0010t0027g0110
a0004c0010t0027g0111
 7 HG00741.hp2
HG01106.hp1
HG02258.hp1
others(4): Show 
HG00741.hp2
HG01106.hp1
HG02258.hp1
HG02965.hp1
HG02970.hp2
HG03209.hp1
NA19240.hp2
 intron_variant MODIFIER c.913+10024C>A
c.913+10024C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76219911
chr5:76219994 G
G
 A
A
 1 a0001c0002t0089g0081
a0001c0002t0089g0081
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.913+10107G>A
c.913+10107G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76219994
chr5:76220094 T
T
 C
C
 11 a0001c0001t0002g0024
a0001c0001t0007g0093
a0001c0001t0011g0040
others(8): Show 
a0001c0001t0002g0024
a0001c0001t0007g0093
a0001c0001t0011g0040
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0117g0012
a0002c0003t0026g0230
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0120g0005
 11 HG01109.hp1
HG01891.hp1
HG02258.hp2
others(8): Show 
HG01109.hp1
HG01891.hp1
HG02258.hp2
HG02723.hp2
HG03041.hp2
HG03130.hp1
HG03540.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.913+10207T>C
c.913+10207T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76220094
chr5:76220133 A
A
 G
G
 34 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(31): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0002t0009g0186
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0147g0195
 34 HG00140.hp2
HG01243.hp2
HG01256.hp1
others(31): Show 
HG00140.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02056.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18955.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+10246A>G
c.913+10246A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76220133
chr5:76220261 A
A
 G
G
 1 a0001c0002t0064g0038
a0001c0002t0064g0038
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.913+10374A>G
c.913+10374A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76220261
chr5:76220269 G
G
 A
A
 1 a0001c0001t0003g0098
a0001c0001t0003g0098
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.913+10382G>A
c.913+10382G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76220269
chr5:76220387 G
G
 C
C
 6 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
others(3): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0008t0002g0216
 6 HG02055.hp1
HG02630.hp2
HG02818.hp2
others(3): Show 
HG02055.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.913+10500G>C
c.913+10500G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76220387
chr5:76220391 G
G
 A
A
 97 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(94): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0024
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0093
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 97 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(94): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG01074.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG04184.hp1
HG04199.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+10504G>A
c.913+10504G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76220391
chr5:76220534 T
T
 C
C
 1 a0002c0006t0061g0049
a0002c0006t0061g0049
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.913+10647T>C
c.913+10647T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76220534
chr5:76220617 T
T
 TA
TA
 92 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(89): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0024
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0093
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0020g0073
a0001c0002t0028g0129
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 92 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG01074.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG04184.hp1
HG04199.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19079.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+10749dupA
c.913+10749dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76220617
chr5:76220617 T
T
 TAA
TAA
 7 a0001c0001t0008g0130
a0001c0001t0013g0085
a0001c0001t0065g0233
others(4): Show 
a0001c0001t0008g0130
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0002t0015g0138
a0002c0003t0080g0084
a0003c0004t0066g0086
 7 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(4): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
NA18990.hp1
NA19060.hp1
 intron_variant MODIFIER c.913+10748_913+1074
others(6): Show 
c.913+10748_913+10749dupAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76220617
chr5:76220617 TA
TA
 T
T
 48 a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0007g0122
others(45): Show 
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0007g0122
a0001c0001t0012g0223
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0044g0074
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0007g0225
a0003c0004t0019g0145
a0003c0004t0139g0016
a0006c0012t0035g0153
a0007c0014t0005g0180
 48 HG01243.hp2
HG01256.hp1
HG01258.hp2
others(45): Show 
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp2
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03471.hp1
HG03834.hp1
HG03834.hp2
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA18966.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19081.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+10749delA
c.913+10749delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76220617
chr5:76220675 G
G
 T
T
 2 a0001c0001t0052g0055
a0001c0002t0015g0138
a0001c0001t0052g0055
a0001c0002t0015g0138
 2 HG04184.hp1
NA18990.hp1
HG04184.hp1
NA18990.hp1
 intron_variant MODIFIER c.913+10788G>T
c.913+10788G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76220675
chr5:76220707 A
A
 T
T
 49 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(46): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0092g0211
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 49 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(46): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02602.hp1
HG02602.hp2
HG02738.hp2
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18960.hp1
NA18975.hp1
NA18990.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+10820A>T
c.913+10820A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76220707
chr5:76220782 C
C
 T
T
 6 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
others(3): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0008t0002g0216
 6 HG02055.hp1
HG02630.hp2
HG02818.hp2
others(3): Show 
HG02055.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.913+10895C>T
c.913+10895C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76220782
chr5:76220827 G
G
 A
A
 6 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
others(3): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0008t0002g0216
 6 HG02055.hp1
HG02630.hp2
HG02818.hp2
others(3): Show 
HG02055.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.913+10940G>A
c.913+10940G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76220827
chr5:76220872 T
T
 C
C
 1 a0003c0004t0019g0145
a0003c0004t0019g0145
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.913+10985T>C
c.913+10985T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76220872
chr5:76220990 C
C
 T
T
 3 a0001c0001t0133g0157
a0001c0002t0102g0234
a0002c0006t0147g0195
a0001c0001t0133g0157
a0001c0002t0102g0234
a0002c0006t0147g0195
 3 HG01496.hp1
HG04204.hp1
NA20905.hp1
HG01496.hp1
HG04204.hp1
NA20905.hp1
 intron_variant MODIFIER c.913+11103C>T
c.913+11103C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76220990
chr5:76220992 G
G
 A
A
 1 a0001c0002t0150g0191
a0001c0002t0150g0191
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.913+11105G>A
c.913+11105G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76220992
chr5:76221215 G
G
 A
A
 86 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(83): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0092g0211
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0038g0066
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 86 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(83): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp2
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp2
HG04184.hp1
HG04199.hp2
NA18945.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+11328G>A
c.913+11328G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76221215
chr5:76221231 G
G
 A
A
 1 a0001c0001t0122g0011
a0001c0001t0122g0011
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.913+11344G>A
c.913+11344G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76221231
chr5:76221472 G
G
 A
A
 42 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(39): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0002t0009g0186
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0019g0145
a0003c0004t0058g0051
 42 HG00140.hp2
HG01243.hp2
HG01256.hp1
others(39): Show 
HG00140.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02630.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18955.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19081.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+11585G>A
c.913+11585G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76221472
chr5:76221515 G
G
 A
A
 1 a0001c0002t0109g0209
a0001c0002t0109g0209
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.913+11628G>A
c.913+11628G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76221515
chr5:76221571 T
T
 C
C
 1 a0001c0002t0099g0132
a0001c0002t0099g0132
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.913+11684T>C
c.913+11684T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76221571
chr5:76221590 C
C
 G
G
 49 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(46): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0092g0211
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 49 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(46): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02602.hp1
HG02602.hp2
HG02738.hp2
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18960.hp1
NA18975.hp1
NA18990.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+11703C>G
c.913+11703C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76221590
chr5:76221671 C
C
 T
T
 2 a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0001t0135g0198
a0001c0002t0025g0232
 2 HG02809.hp1
NA19030.hp1
HG02809.hp1
NA19030.hp1
 intron_variant MODIFIER c.913+11784C>T
c.913+11784C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76221671
chr5:76221738 G
G
 T
T
 49 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(46): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0092g0211
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 49 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(46): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02602.hp1
HG02602.hp2
HG02738.hp2
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18960.hp1
NA18975.hp1
NA18990.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+11851G>T
c.913+11851G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76221738
chr5:76222183 A
A
 G
G
 102 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(99): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0114g0125
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0139g0016
a0004c0010t0027g0110
a0004c0010t0027g0111
 102 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(99): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18945.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18968.hp1
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19240.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+12296A>G
c.913+12296A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76222183
chr5:76222340 C
C
 T
T
 3 a0001c0001t0022g0214
a0003c0004t0019g0145
a0003c0004t0058g0051
a0001c0001t0022g0214
a0003c0004t0019g0145
a0003c0004t0058g0051
 3 HG02083.hp1
NA19007.hp1
NA19081.hp2
HG02083.hp1
NA19007.hp1
NA19081.hp2
 intron_variant MODIFIER c.913+12453C>T
c.913+12453C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76222340
chr5:76222386 A
A
 G
G
 2 a0001c0002t0089g0081
a0002c0003t0129g0188
a0001c0002t0089g0081
a0002c0003t0129g0188
 2 HG01243.hp2
NA19030.hp2
HG01243.hp2
NA19030.hp2
 intron_variant MODIFIER c.913+12499A>G
c.913+12499A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76222386
chr5:76222592 A
A
 T
T
 6 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
others(3): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0008t0002g0216
 6 HG02055.hp1
HG02630.hp2
HG02818.hp2
others(3): Show 
HG02055.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.913+12705A>T
c.913+12705A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76222592
chr5:76222604 T
T
 C
C
 162 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(159): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 162 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+12717T>C
c.913+12717T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76222604
chr5:76222641 T
T
 C
C
 102 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(99): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0114g0125
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0139g0016
a0004c0010t0027g0110
a0004c0010t0027g0111
 102 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(99): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18945.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18968.hp1
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19060.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19240.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+12754T>C
c.913+12754T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76222641
chr5:76222760 T
T
 A
A
 1 a0001c0002t0014g0136
a0001c0002t0014g0136
 1 HG01168.hp2
HG01168.hp2
 intron_variant MODIFIER c.913+12873T>A
c.913+12873T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76222760
chr5:76222835 A
A
 G
G
 1 a0001c0002t0097g0114
a0001c0002t0097g0114
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.913+12948A>G
c.913+12948A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76222835
chr5:76222921 T
T
 G
G
 100 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(97): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0114g0125
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0139g0016
a0004c0010t0027g0110
a0004c0010t0027g0111
 100 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(97): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18945.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18968.hp1
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19060.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19240.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+13034T>G
c.913+13034T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76222921
chr5:76222943 G
G
 A
A
 81 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(78): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0002t0020g0042
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0114g0125
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0058g0051
a0004c0010t0027g0110
a0004c0010t0027g0111
 81 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(78): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02630.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18945.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18968.hp1
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19060.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19240.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+13056G>A
c.913+13056G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76222943
chr5:76223025 T
T
 C
C
 100 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(97): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0114g0125
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0139g0016
a0004c0010t0027g0110
a0004c0010t0027g0111
 100 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(97): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18945.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18968.hp1
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19060.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19240.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+13138T>C
c.913+13138T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223025
chr5:76223059 C
C
 T
T
 19 a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
others(16): Show 
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0080g0084
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0095g0091
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0139g0016
 19 HG01884.hp1
HG02055.hp2
HG02572.hp1
others(16): Show 
HG01884.hp1
HG02055.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
NA18522.hp2
 intron_variant MODIFIER c.913+13172C>T
c.913+13172C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223059
chr5:76223147 A
A
 G
G
 100 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(97): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0020g0042
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0114g0125
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0139g0016
a0004c0010t0027g0110
a0004c0010t0027g0111
 100 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(97): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00738.hp2
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02258.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18945.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18968.hp1
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19060.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19240.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+13260A>G
c.913+13260A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223147
chr5:76223187 A
A
 G
G
 4 a0001c0001t0001g0039
a0001c0001t0001g0058
a0001c0001t0031g0179
others(1): Show 
a0001c0001t0001g0039
a0001c0001t0001g0058
a0001c0001t0031g0179
a0001c0002t0098g0113
 4 HG01928.hp1
HG02109.hp2
HG02300.hp2
others(1): Show 
HG01928.hp1
HG02109.hp2
HG02300.hp2
NA20905.hp2
 intron_variant MODIFIER c.913+13300A>G
c.913+13300A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223187
chr5:76223278 A
A
 C
C
 4 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
others(1): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
a0003c0004t0009g0017
 4 HG00733.hp1
HG02630.hp1
HG02717.hp2
others(1): Show 
HG00733.hp1
HG02630.hp1
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+13391A>C
c.913+13391A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223278
chr5:76223331 A
A
 G
G
 70 a0001c0001t0001g0031
a0001c0001t0002g0094
a0001c0001t0002g0224
others(67): Show 
a0001c0001t0001g0031
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0033g0003
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0139g0016
a0004c0010t0027g0110
a0004c0010t0027g0111
 70 HG00140.hp2
HG00741.hp2
HG01106.hp1
others(67): Show 
HG00140.hp2
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19060.hp2
NA19081.hp2
NA19240.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+13444A>G
c.913+13444A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223331
chr5:76223436 CATACATA
others(15): Show 
CATACATACATATATATATATAT
 C
C
 3 a0001c0001t0008g0217
a0001c0002t0036g0014
a0003c0004t0009g0017
a0001c0001t0008g0217
a0001c0002t0036g0014
a0003c0004t0009g0017
 3 HG00733.hp1
HG02717.hp2
NA20129.hp2
HG00733.hp1
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+13553_913+1357
others(26): Show 
c.913+13553_913+13574delCATACATATATATATATATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223436
chr5:76223436 CATACATA
others(25): Show 
CATACATACATATATATATATATATATATATAT
 C
C
 1 a0001c0001t0040g0070
a0001c0001t0040g0070
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.913+13553_913+1358
others(36): Show 
c.913+13553_913+13584delCATACATATATATATATATATATATA
TATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223436
chr5:76223440 CATACATA
others(3): Show 
CATACATATAT
 C
C
 1 a0002c0003t0044g0074
a0002c0003t0044g0074
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.913+13557_913+1356
others(14): Show 
c.913+13557_913+13566delCATATATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223440
chr5:76223440 CATACATA
others(5): Show 
CATACATATATAT
 C
C
 1 a0001c0002t0009g0186
a0001c0002t0009g0186
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.913+13557_913+1356
others(16): Show 
c.913+13557_913+13568delCATATATATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223440
chr5:76223440 CATACATA
others(9): Show 
CATACATATATATATAT
 C
C
 3 a0001c0001t0084g0090
a0001c0002t0109g0209
a0003c0004t0058g0051
a0001c0001t0084g0090
a0001c0002t0109g0209
a0003c0004t0058g0051
 3 HG01891.hp2
HG02572.hp2
NA19007.hp1
HG01891.hp2
HG02572.hp2
NA19007.hp1
 intron_variant MODIFIER c.913+13557_913+1357
others(20): Show 
c.913+13557_913+13572delCATATATATATATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223440
chr5:76223440 CATACATA
others(11): Show 
CATACATATATATATATAT
 C
C
 8 a0001c0001t0004g0080
a0001c0001t0007g0122
a0001c0001t0046g0050
others(5): Show 
a0001c0001t0004g0080
a0001c0001t0007g0122
a0001c0001t0046g0050
a0001c0007t0004g0079
a0002c0003t0086g0088
a0003c0004t0019g0145
a0004c0010t0027g0110
a0004c0010t0027g0111
 8 HG00741.hp2
HG01106.hp1
HG02258.hp1
others(5): Show 
HG00741.hp2
HG01106.hp1
HG02258.hp1
HG02486.hp2
HG02717.hp1
HG02965.hp1
NA19081.hp2
NA19240.hp2
 intron_variant MODIFIER c.913+13557_913+1357
others(22): Show 
c.913+13557_913+13574delCATATATATATATATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223440
chr5:76223440 CATACATA
others(13): Show 
CATACATATATATATATATAT
 C
C
 3 a0001c0001t0022g0214
a0001c0001t0073g0089
a0001c0001t0088g0123
a0001c0001t0022g0214
a0001c0001t0073g0089
a0001c0001t0088g0123
 3 HG02083.hp1
HG02451.hp2
NA21309.hp2
HG02083.hp1
HG02451.hp2
NA21309.hp2
 intron_variant MODIFIER c.913+13557_913+1357
others(24): Show 
c.913+13557_913+13576delCATATATATATATATATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223440
chr5:76223440 CATACATA
others(17): Show 
CATACATATATATATATATATATAT
 C
C
 6 a0001c0001t0126g0172
a0001c0001t0133g0157
a0001c0002t0096g0112
others(3): Show 
a0001c0001t0126g0172
a0001c0001t0133g0157
a0001c0002t0096g0112
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
 6 HG02738.hp1
HG02896.hp1
HG02970.hp2
others(3): Show 
HG02738.hp1
HG02896.hp1
HG02970.hp2
HG03209.hp1
HG03834.hp1
HG04204.hp1
 intron_variant MODIFIER c.913+13557_913+1358
others(28): Show 
c.913+13557_913+13580delCATATATATATATATATATATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223440
chr5:76223440 CATACATA
others(19): Show 
CATACATATATATATATATATATATAT
 C
C
 4 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0132g0009
others(1): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0132g0009
a0001c0002t0103g0148
 4 HG01884.hp2
HG02630.hp2
HG02818.hp2
others(1): Show 
HG01884.hp2
HG02630.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.913+13557_913+1358
others(30): Show 
c.913+13557_913+13582delCATATATATATATATATATATATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223440
chr5:76223440 CATACATA
others(21): Show 
CATACATATATATATATATATATATATAT
 C
C
 10 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0118g0018
others(7): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0118g0018
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0002t0102g0234
a0001c0002t0106g0210
a0001c0002t0152g0199
a0001c0002t0153g0200
a0002c0006t0147g0195
 10 HG01256.hp1
HG01258.hp2
HG01496.hp1
others(7): Show 
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG02145.hp1
HG02886.hp2
HG02965.hp2
HG03098.hp2
HG03195.hp2
HG03471.hp1
NA20905.hp1
 intron_variant MODIFIER c.913+13557_913+1358
others(32): Show 
c.913+13557_913+13584delCATATATATATATATATATATATATA
TA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223440
chr5:76223440 CATACATA
others(23): Show 
CATACATATATATATATATATATATATATAT
 C
C
 12 a0001c0001t0002g0224
a0001c0001t0018g0067
a0001c0001t0043g0028
others(9): Show 
a0001c0001t0002g0224
a0001c0001t0018g0067
a0001c0001t0043g0028
a0001c0001t0131g0181
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0002t0025g0232
a0001c0002t0107g0207
a0001c0002t0154g0197
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0006t0094g0142
 12 HG00140.hp2
HG02015.hp2
HG02056.hp1
others(9): Show 
HG00140.hp2
HG02015.hp2
HG02056.hp1
HG02559.hp1
HG02735.hp2
HG02809.hp1
HG02922.hp1
HG03139.hp2
HG04199.hp1
NA18955.hp1
NA19011.hp1
NA19030.hp1
 intron_variant MODIFIER c.913+13557_913+1358
others(34): Show 
c.913+13557_913+13586delCATATATATATATATATATATATATA
TATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223440
chr5:76223440 CATACATA
others(25): Show 
CATACATATATATATATATATATATATATATAT
 C
C
 2 a0001c0001t0002g0023
a0001c0001t0047g0046
a0001c0001t0002g0023
a0001c0001t0047g0046
 2 HG02109.hp1
HG02970.hp1
HG02109.hp1
HG02970.hp1
 intron_variant MODIFIER c.913+13557_913+1358
others(36): Show 
c.913+13557_913+13588delCATATATATATATATATATATATATA
TATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223440
chr5:76223440 CATACATA
others(27): Show 
CATACATATATATATATATATATATATATATATAT
 C
C
 2 a0001c0001t0048g0047
a0001c0002t0093g0205
a0001c0001t0048g0047
a0001c0002t0093g0205
 2 HG00735.hp2
NA19043.hp1
HG00735.hp2
NA19043.hp1
 intron_variant MODIFIER c.913+13557_913+1359
others(38): Show 
c.913+13557_913+13590delCATATATATATATATATATATATATA
TATATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223440
chr5:76223440 CATACATA
others(29): Show 
CATACATATATATATATATATATATATATATATATAT
 C
C
 2 a0001c0002t0089g0081
a0002c0003t0129g0188
a0001c0002t0089g0081
a0002c0003t0129g0188
 2 HG01243.hp2
NA19030.hp2
HG01243.hp2
NA19030.hp2
 intron_variant MODIFIER c.913+13557_913+1359
others(40): Show 
c.913+13557_913+13592delCATATATATATATATATATATATATA
TATATATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223440
chr5:76223440 CATACATA
others(33): Show 
CATACATATATATATATATATATATATATATATATATATAT
 C
C
 1 a0002c0008t0002g0216
a0002c0008t0002g0216
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.913+13557_913+1359
others(44): Show 
c.913+13557_913+13596delCATATATATATATATATATATATATA
TATATATATATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223440
chr5:76223444 C
C
 CAT
CAT
 7 a0001c0001t0005g0162
a0001c0001t0123g0002
a0001c0002t0015g0121
others(4): Show 
a0001c0001t0005g0162
a0001c0001t0123g0002
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0037g0154
a0001c0002t0145g0189
a0002c0003t0033g0169
 7 HG01106.hp2
HG01123.hp1
HG03704.hp2
others(4): Show 
HG01106.hp2
HG01123.hp1
HG03704.hp2
HG04204.hp2
NA18952.hp1
NA18968.hp2
NA18990.hp1
 intron_variant MODIFIER c.913+13608_913+1360
others(6): Show 
c.913+13608_913+13609dupAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223444
chr5:76223444 C
C
 CATAT
CATAT
 5 a0001c0001t0022g0108
a0001c0001t0081g0202
a0001c0002t0028g0129
others(2): Show 
a0001c0001t0022g0108
a0001c0001t0081g0202
a0001c0002t0028g0129
a0001c0002t0142g0001
a0003c0004t0012g0222
 5 HG00558.hp2
HG01243.hp1
HG01981.hp2
others(2): Show 
HG00558.hp2
HG01243.hp1
HG01981.hp2
HG02056.hp2
NA19063.hp2
 intron_variant MODIFIER c.913+13606_913+1360
others(8): Show 
c.913+13606_913+13609dupATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223444
chr5:76223444 C
C
 CATATAT
CATATAT
 6 a0001c0001t0003g0170
a0001c0001t0075g0115
a0001c0001t0157g0029
others(3): Show 
a0001c0001t0003g0170
a0001c0001t0075g0115
a0001c0001t0157g0029
a0001c0002t0035g0178
a0003c0005t0030g0118
a0007c0014t0005g0180
 6 HG00423.hp1
HG01123.hp2
HG01258.hp1
others(3): Show 
HG00423.hp1
HG01123.hp2
HG01258.hp1
HG02015.hp1
HG03834.hp2
NA19081.hp1
 intron_variant MODIFIER c.913+13604_913+1360
others(10): Show 
c.913+13604_913+13609dupATATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223444
chr5:76223444 C
C
 CATATATA
others(1): Show 
CATATATAT
 5 a0001c0001t0003g0185
a0001c0001t0137g0159
a0001c0002t0006g0156
others(2): Show 
a0001c0001t0003g0185
a0001c0001t0137g0159
a0001c0002t0006g0156
a0001c0002t0006g0192
a0001c0002t0099g0132
 5 HG00738.hp1
HG01261.hp2
HG01943.hp2
others(2): Show 
HG00738.hp1
HG01261.hp2
HG01943.hp2
HG02300.hp1
HG04184.hp2
 intron_variant MODIFIER c.913+13602_913+1360
others(12): Show 
c.913+13602_913+13609dupATATATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223444
chr5:76223444 C
C
 CATATATA
others(5): Show 
CATATATATATAT
 1 a0001c0002t0015g0135
a0001c0002t0015g0135
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.913+13598_913+1360
others(16): Show 
c.913+13598_913+13609dupATATATATATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223444
chr5:76223444 C
C
 CATATATA
others(9): Show 
CATATATATATATATAT
 2 a0001c0002t0064g0038
a0003c0005t0155g0149
a0001c0002t0064g0038
a0003c0005t0155g0149
 2 NA18966.hp2
NA18975.hp2
NA18966.hp2
NA18975.hp2
 intron_variant MODIFIER c.913+13594_913+1360
others(20): Show 
c.913+13594_913+13609dupATATATATATATATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223444
chr5:76223444 CAT
CAT
 C
C
 7 a0001c0001t0001g0039
a0001c0001t0003g0096
a0001c0001t0031g0179
others(4): Show 
a0001c0001t0001g0039
a0001c0001t0003g0096
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0002t0060g0052
a0001c0002t0144g0155
a0006c0012t0035g0153
 7 HG01074.hp2
HG01515.hp1
HG01928.hp1
others(4): Show 
HG01074.hp2
HG01515.hp1
HG01928.hp1
HG02698.hp2
NA18990.hp2
NA19084.hp1
NA20905.hp2
 intron_variant MODIFIER c.913+13608_913+1360
others(6): Show 
c.913+13608_913+13609delAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223444
chr5:76223444 CATAT
CATAT
 C
C
 8 a0001c0001t0001g0027
a0001c0001t0003g0098
a0001c0001t0018g0044
others(5): Show 
a0001c0001t0001g0027
a0001c0001t0003g0098
a0001c0001t0018g0044
a0001c0001t0032g0160
a0001c0002t0014g0134
a0001c0013t0014g0119
a0002c0006t0063g0053
a0003c0005t0034g0173
 8 HG04228.hp2
NA18960.hp2
NA18966.hp1
others(5): Show 
HG04228.hp2
NA18960.hp2
NA18966.hp1
NA18998.hp1
NA18998.hp2
NA19007.hp2
NA19091.hp1
NA19091.hp2
 intron_variant MODIFIER c.913+13606_913+1360
others(8): Show 
c.913+13606_913+13609delATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223444
chr5:76223444 CATATAT
CATATAT
 C
C
 9 a0001c0001t0001g0061
a0001c0001t0003g0171
a0001c0001t0008g0104
others(6): Show 
a0001c0001t0001g0061
a0001c0001t0003g0171
a0001c0001t0008g0104
a0001c0001t0023g0131
a0001c0001t0083g0204
a0001c0002t0020g0042
a0001c0002t0029g0146
a0001c0002t0097g0114
a0001c0002t0149g0019
 9 HG02523.hp2
HG03486.hp2
HG03540.hp2
others(6): Show 
HG02523.hp2
HG03486.hp2
HG03540.hp2
HG04228.hp1
NA18955.hp2
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19088.hp2
 intron_variant MODIFIER c.913+13604_913+1360
others(10): Show 
c.913+13604_913+13609delATATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223444
chr5:76223444 CATATATA
others(1): Show 
CATATATAT
 C
C
 7 a0001c0001t0032g0004
a0001c0001t0053g0045
a0001c0002t0098g0113
others(4): Show 
a0001c0001t0032g0004
a0001c0001t0053g0045
a0001c0002t0098g0113
a0001c0009t0031g0184
a0001c0009t0134g0182
a0002c0003t0072g0143
a0003c0004t0038g0066
 7 HG00423.hp2
HG01361.hp2
HG01928.hp2
others(4): Show 
HG00423.hp2
HG01361.hp2
HG01928.hp2
HG02109.hp2
HG03704.hp1
NA18981.hp1
NA18981.hp2
 intron_variant MODIFIER c.913+13602_913+1360
others(12): Show 
c.913+13602_913+13609delATATATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223444
chr5:76223444 CATATATA
others(3): Show 
CATATATATAT
 C
C
 14 a0001c0001t0001g0031
a0001c0001t0003g0167
a0001c0001t0004g0219
others(11): Show 
a0001c0001t0001g0031
a0001c0001t0003g0167
a0001c0001t0004g0219
a0001c0001t0005g0099
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0065
a0001c0001t0033g0003
a0001c0001t0077g0212
a0001c0002t0101g0144
a0001c0002t0114g0125
a0001c0002t0151g0151
a0001c0009t0076g0213
 14 HG00140.hp1
HG00280.hp2
HG00642.hp2
others(11): Show 
HG00140.hp1
HG00280.hp2
HG00642.hp2
HG00738.hp2
HG01433.hp2
HG02080.hp2
HG02523.hp1
HG02735.hp1
NA18945.hp1
NA18952.hp2
NA18954.hp1
NA19011.hp2
NA19060.hp2
NA19083.hp2
 intron_variant MODIFIER c.913+13600_913+1360
others(14): Show 
c.913+13600_913+13609delATATATATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223444
chr5:76223444 CATATATA
others(5): Show 
CATATATATATAT
 C
C
 7 a0001c0001t0012g0083
a0001c0001t0056g0069
a0002c0003t0049g0025
others(4): Show 
a0001c0001t0012g0083
a0001c0001t0056g0069
a0002c0003t0049g0025
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0005c0011t0143g0015
 7 HG02280.hp2
HG02451.hp1
HG02559.hp2
others(4): Show 
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02615.hp2
HG02647.hp2
HG02922.hp2
NA19056.hp1
 intron_variant MODIFIER c.913+13598_913+1360
others(16): Show 
c.913+13598_913+13609delATATATATATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223444
chr5:76223444 CATATATA
others(9): Show 
CATATATATATATATAT
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.913+13594_913+1360
others(20): Show 
c.913+13594_913+13609delATATATATATATATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223444
chr5:76223444 CATATATA
others(17): Show 
CATATATATATATATATATATATAT
 C
C
 2 a0001c0001t0003g0165
a0001c0001t0011g0056
a0001c0001t0003g0165
a0001c0001t0011g0056
 2 NA18968.hp1
NA19005.hp1
NA18968.hp1
NA19005.hp1
 intron_variant MODIFIER c.913+13586_913+1360
others(28): Show 
c.913+13586_913+13609delATATATATATATATATATATATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223444
chr5:76223448 T
T
 C
C
 2 a0001c0001t0001g0054
a0001c0001t0042g0072
a0001c0001t0001g0054
a0001c0001t0042g0072
 2 HG03195.hp1
NA18992.hp1
HG03195.hp1
NA18992.hp1
 intron_variant MODIFIER c.913+13561T>C
c.913+13561T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223448
chr5:76223450 T
T
 C
C
 2 a0001c0001t0001g0039
a0001c0001t0031g0179
a0001c0001t0001g0039
a0001c0001t0031g0179
 2 HG01928.hp1
NA20905.hp2
HG01928.hp1
NA20905.hp2
 intron_variant MODIFIER c.913+13563T>C
c.913+13563T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223450
chr5:76223452 T
T
 C
C
 2 a0001c0001t0018g0044
a0001c0013t0014g0119
a0001c0001t0018g0044
a0001c0013t0014g0119
 2 NA18998.hp1
NA18998.hp2
NA18998.hp1
NA18998.hp2
 intron_variant MODIFIER c.913+13565T>C
c.913+13565T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223452
chr5:76223453 ATATATAT
others(37): Show 
ATATATATATATATATATATATATATATATATATATATATATATG
 A
A
 11 a0001c0001t0002g0024
a0001c0001t0007g0093
a0001c0001t0011g0040
others(8): Show 
a0001c0001t0002g0024
a0001c0001t0007g0093
a0001c0001t0011g0040
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0117g0012
a0002c0003t0026g0230
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0120g0005
 11 HG01109.hp1
HG01891.hp1
HG02258.hp2
others(8): Show 
HG01109.hp1
HG01891.hp1
HG02258.hp2
HG02723.hp2
HG03041.hp2
HG03130.hp1
HG03540.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.913+13572_913+1361
others(48): Show 
c.913+13572_913+13615delATATATATATATATATATATATATAT
ATATATATATATGTATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223453
chr5:76223454 T
T
 C
C
 7 a0001c0001t0001g0061
a0001c0001t0003g0171
a0001c0001t0023g0131
others(4): Show 
a0001c0001t0001g0061
a0001c0001t0003g0171
a0001c0001t0023g0131
a0001c0001t0083g0204
a0001c0002t0020g0042
a0001c0002t0029g0146
a0001c0002t0149g0019
 7 HG02523.hp2
HG03486.hp2
HG03540.hp2
others(4): Show 
HG02523.hp2
HG03486.hp2
HG03540.hp2
HG04228.hp1
NA18955.hp2
NA19072.hp2
NA19079.hp2
 intron_variant MODIFIER c.913+13567T>C
c.913+13567T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223454
chr5:76223456 T
T
 C
C
 6 a0001c0001t0032g0004
a0001c0002t0098g0113
a0001c0009t0031g0184
others(3): Show 
a0001c0001t0032g0004
a0001c0002t0098g0113
a0001c0009t0031g0184
a0001c0009t0134g0182
a0002c0003t0072g0143
a0003c0004t0038g0066
 6 HG00423.hp2
HG01361.hp2
HG01928.hp2
others(3): Show 
HG00423.hp2
HG01361.hp2
HG01928.hp2
HG02109.hp2
NA18981.hp1
NA18981.hp2
 intron_variant MODIFIER c.913+13569T>C
c.913+13569T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223456
chr5:76223457 ATATATAT
others(33): Show 
ATATATATATATATATATATATATATATATATATATATATG
 A
A
 1 a0001c0002t0006g0196
a0001c0002t0006g0196
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.913+13576_913+1361
others(44): Show 
c.913+13576_913+13615delATATATATATATATATATATATATAT
ATATATATGTATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223457
chr5:76223458 T
T
 C
C
 11 a0001c0001t0001g0031
a0001c0001t0003g0167
a0001c0001t0005g0099
others(8): Show 
a0001c0001t0001g0031
a0001c0001t0003g0167
a0001c0001t0005g0099
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0033g0003
a0001c0001t0077g0212
a0001c0002t0101g0144
a0001c0002t0114g0125
a0001c0002t0151g0151
 11 HG00140.hp1
HG00280.hp2
HG00738.hp2
others(8): Show 
HG00140.hp1
HG00280.hp2
HG00738.hp2
HG01433.hp2
HG02080.hp2
HG02523.hp1
HG02735.hp1
NA18945.hp1
NA18952.hp2
NA19011.hp2
NA19060.hp2
 intron_variant MODIFIER c.913+13571T>C
c.913+13571T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223458
chr5:76223459 ATATATAT
others(31): Show 
ATATATATATATATATATATATATATATATATATATATG
 A
A
 14 a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0082g0220
others(11): Show 
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0082g0220
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0095g0091
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 14 HG01884.hp1
HG02055.hp2
HG02572.hp1
others(11): Show 
HG01884.hp1
HG02055.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp2
NA18522.hp2
 intron_variant MODIFIER c.913+13578_913+1361
others(42): Show 
c.913+13578_913+13615delATATATATATATATATATATATATAT
ATATATGTATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223459
chr5:76223464 T
T
 C
C
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.913+13577T>C
c.913+13577T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223464
chr5:76223469 ATATATAT
others(21): Show 
ATATATATATATATATATATATATATATG
 A
A
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.913+13588_913+1361
others(32): Show 
c.913+13588_913+13615delATATATATATATATATATATATGTAT
AT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223469
chr5:76223471 ATATATAT
others(19): Show 
ATATATATATATATATATATATATATG
 A
A
 3 a0001c0001t0013g0085
a0002c0003t0080g0084
a0003c0004t0066g0086
a0001c0001t0013g0085
a0002c0003t0080g0084
a0003c0004t0066g0086
 3 HG02886.hp1
HG02895.hp2
HG03209.hp2
HG02886.hp1
HG02895.hp2
HG03209.hp2
 intron_variant MODIFIER c.913+13590_913+1361
others(30): Show 
c.913+13590_913+13615delATATATATATATATATATATGTATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223471
chr5:76223472 T
T
 C
C
 2 a0001c0001t0003g0165
a0001c0001t0011g0056
a0001c0001t0003g0165
a0001c0001t0011g0056
 2 NA18968.hp1
NA19005.hp1
NA18968.hp1
NA19005.hp1
 intron_variant MODIFIER c.913+13585T>C
c.913+13585T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223472
chr5:76223473 ATATATAT
others(17): Show 
ATATATATATATATATATATATATG
 A
A
 1 a0001c0002t0006g0174
a0001c0002t0006g0174
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.913+13592_913+1361
others(28): Show 
c.913+13592_913+13615delATATATATATATATATATGTATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223473
chr5:76223475 ATATATAT
others(15): Show 
ATATATATATATATATATATATG
 A
A
 2 a0001c0001t0065g0233
a0002c0003t0017g0030
a0001c0001t0065g0233
a0002c0003t0017g0030
 2 HG02976.hp2
HG03486.hp1
HG02976.hp2
HG03486.hp1
 intron_variant MODIFIER c.913+13594_913+1361
others(26): Show 
c.913+13594_913+13615delATATATATATATATATGTATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223475
chr5:76223479 ATATATAT
others(11): Show 
ATATATATATATATATATG
 A
A
 11 a0001c0001t0001g0059
a0001c0001t0008g0130
a0001c0001t0023g0102
others(8): Show 
a0001c0001t0001g0059
a0001c0001t0008g0130
a0001c0001t0023g0102
a0001c0001t0136g0095
a0001c0002t0020g0073
a0001c0002t0110g0124
a0001c0002t0112g0116
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
 11 HG00558.hp1
HG01433.hp1
HG02080.hp1
others(8): Show 
HG00558.hp1
HG01433.hp1
HG02080.hp1
HG02602.hp1
NA18960.hp1
NA19001.hp1
NA19001.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA20129.hp1
 intron_variant MODIFIER c.913+13598_913+1361
others(22): Show 
c.913+13598_913+13615delATATATATATATGTATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223479
chr5:76223481 ATATATAT
others(9): Show 
ATATATATATATATATG
 A
A
 7 a0001c0001t0008g0127
a0001c0001t0052g0055
a0001c0002t0014g0136
others(4): Show 
a0001c0001t0008g0127
a0001c0001t0052g0055
a0001c0002t0014g0136
a0001c0002t0108g0120
a0001c0002t0150g0191
a0003c0004t0016g0101
a0003c0005t0156g0193
 7 HG00280.hp1
HG01168.hp1
HG01168.hp2
others(4): Show 
HG00280.hp1
HG01168.hp1
HG01168.hp2
HG02083.hp2
HG02602.hp2
HG04184.hp1
NA19072.hp1
 intron_variant MODIFIER c.913+13600_913+1361
others(20): Show 
c.913+13600_913+13615delATATATATATGTATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223481
chr5:76223483 ATATATAT
others(7): Show 
ATATATATATATATG
 A
A
 11 a0001c0001t0004g0229
a0001c0001t0024g0201
a0001c0001t0051g0035
others(8): Show 
a0001c0001t0004g0229
a0001c0001t0024g0201
a0001c0001t0051g0035
a0001c0001t0054g0063
a0001c0001t0092g0211
a0001c0002t0146g0175
a0001c0007t0004g0077
a0001c0015t0079g0087
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
 11 HG00735.hp1
HG01943.hp1
HG02280.hp1
others(8): Show 
HG00735.hp1
HG01943.hp1
HG02280.hp1
HG03139.hp1
HG03225.hp1
HG04199.hp2
NA18975.hp1
NA19043.hp2
NA19088.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+13602_913+1361
others(18): Show 
c.913+13602_913+13615delATATATATGTATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223483
chr5:76223485 ATATATAT
others(5): Show 
ATATATATATATG
 A
A
 6 a0001c0001t0001g0057
a0001c0001t0024g0203
a0001c0001t0055g0064
others(3): Show 
a0001c0001t0001g0057
a0001c0001t0024g0203
a0001c0001t0055g0064
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
 6 HG01255.hp2
NA18951.hp2
NA19005.hp2
others(3): Show 
HG01255.hp2
NA18951.hp2
NA19005.hp2
NA19068.hp1
NA19079.hp1
NA19084.hp2
 intron_variant MODIFIER c.913+13604_913+1361
others(16): Show 
c.913+13604_913+13615delATATATGTATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223485
chr5:76223487 ATATATAT
others(3): Show 
ATATATATATG
 A
A
 5 a0001c0002t0105g0117
a0001c0007t0004g0075
a0001c0007t0078g0076
others(2): Show 
a0001c0002t0105g0117
a0001c0007t0004g0075
a0001c0007t0078g0076
a0003c0005t0113g0140
a0003c0005t0116g0126
 5 HG01074.hp1
HG01109.hp2
HG02145.hp2
others(2): Show 
HG01074.hp1
HG01109.hp2
HG02145.hp2
HG02486.hp1
HG03098.hp1
 intron_variant MODIFIER c.913+13606_913+1361
others(14): Show 
c.913+13606_913+13615delATATGTATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223487
chr5:76223489 ATATATAT
others(1): Show 
ATATATATG
 A
A
 3 a0001c0001t0009g0008
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0001t0009g0008
a0001c0002t0036g0176
a0001c0002t0037g0194
 3 HG00733.hp2
HG01515.hp2
HG02257.hp2
HG00733.hp2
HG01515.hp2
HG02257.hp2
 intron_variant MODIFIER c.913+13608_913+1361
others(12): Show 
c.913+13608_913+13615delATGTATAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223489
chr5:76223497 G
G
 A
A
 60 a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
others(57): Show 
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0002t0009g0186
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0058g0051
a0004c0010t0027g0110
a0004c0010t0027g0111
 60 HG00140.hp2
HG00733.hp1
HG00735.hp2
others(57): Show 
HG00140.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18955.hp1
NA18990.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19081.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+13610G>A
c.913+13610G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223497
chr5:76223502 T
T
 C
C
 77 a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
others(74): Show 
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0012g0223
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0139g0016
a0004c0010t0027g0110
a0004c0010t0027g0111
 77 HG00140.hp2
HG00741.hp2
HG01106.hp1
others(74): Show 
HG00140.hp2
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18955.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19081.hp2
NA19240.hp1
NA19240.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+13615T>C
c.913+13615T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223502
chr5:76223505 A
A
 G
G
 1 a0001c0002t0013g0082
a0001c0002t0013g0082
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.913+13618A>G
c.913+13618A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223505
chr5:76223533 G
G
 A
A
 48 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
others(45): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0007g0122
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0019g0145
a0003c0004t0058g0051
a0004c0010t0027g0110
a0004c0010t0027g0111
 48 HG00140.hp2
HG00741.hp2
HG01106.hp1
others(45): Show 
HG00140.hp2
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02083.hp1
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02630.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18955.hp1
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19081.hp2
NA19240.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.913+13646G>A
c.913+13646G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223533
chr5:76223559 C
C
 A
A
 1 a0001c0001t0012g0223
a0001c0001t0012g0223
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.913+13672C>A
c.913+13672C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223559
chr5:76223559 C
C
 T
T
 2 a0001c0001t0002g0224
a0001c0001t0131g0181
a0001c0001t0002g0224
a0001c0001t0131g0181
 2 HG02559.hp1
HG03139.hp2
HG02559.hp1
HG03139.hp2
 intron_variant MODIFIER c.913+13672C>T
c.913+13672C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223559
chr5:76223696 A
A
 G
G
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.913+13809A>G
c.913+13809A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223696
chr5:76223773 C
C
 G
G
 3 a0001c0001t0022g0214
a0003c0004t0019g0145
a0003c0004t0058g0051
a0001c0001t0022g0214
a0003c0004t0019g0145
a0003c0004t0058g0051
 3 HG02083.hp1
NA19007.hp1
NA19081.hp2
HG02083.hp1
NA19007.hp1
NA19081.hp2
 intron_variant MODIFIER c.913+13886C>G
c.913+13886C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223773
chr5:76223906 C
C
 CGTGGTGG
others(10): Show 
CGTGGTGGGGATGGGGAA
 5 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(2): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
a0003c0004t0066g0086
 5 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(2): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.913+14029_913+1404
others(21): Show 
c.913+14029_913+14045dupATGGGGAAGTGGTGGGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76223906
chr5:76223934 G
G
 A
A
 11 a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0040g0070
others(8): Show 
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0040g0070
a0001c0001t0082g0220
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0036g0014
a0003c0004t0009g0017
a0003c0004t0057g0071
a0003c0004t0139g0016
 11 HG00733.hp1
HG01884.hp1
HG02055.hp2
others(8): Show 
HG00733.hp1
HG01884.hp1
HG02055.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp1
HG03041.hp1
HG03130.hp2
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+14047G>A
c.913+14047G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76223934
chr5:76224062 G
G
 C
C
 5 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(2): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
a0003c0004t0066g0086
 5 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(2): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.913+14175G>C
c.913+14175G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76224062
chr5:76224091 A
A
 G
G
 1 a0001c0001t0135g0198
a0001c0001t0135g0198
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.913+14204A>G
c.913+14204A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76224091
chr5:76224153 G
G
 A
A
 6 a0001c0001t0002g0023
a0001c0001t0047g0046
a0001c0001t0048g0047
others(3): Show 
a0001c0001t0002g0023
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0130g0010
a0001c0002t0009g0186
a0001c0002t0093g0205
 6 HG00735.hp2
HG02109.hp1
HG02145.hp1
others(3): Show 
HG00735.hp2
HG02109.hp1
HG02145.hp1
HG02970.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.913+14266G>A
c.913+14266G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76224153
chr5:76224165 T
T
 C
C
 5 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(2): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
a0003c0004t0066g0086
 5 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(2): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.913+14278T>C
c.913+14278T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76224165
chr5:76224185 T
T
 G
G
 7 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
others(4): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0144g0155
a0002c0008t0002g0216
 7 HG02055.hp1
HG02630.hp2
HG02698.hp2
others(4): Show 
HG02055.hp1
HG02630.hp2
HG02698.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.913+14298T>G
c.913+14298T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76224185
chr5:76224366 A
A
 C
C
 2 a0001c0002t0006g0177
a0001c0002t0035g0178
a0001c0002t0006g0177
a0001c0002t0035g0178
 2 HG01123.hp2
HG02257.hp1
HG01123.hp2
HG02257.hp1
 intron_variant MODIFIER c.913+14479A>C
c.913+14479A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76224366
chr5:76224703 CT
CT
 C
C
 7 a0001c0001t0004g0080
a0001c0001t0046g0050
a0001c0007t0004g0079
others(4): Show 
a0001c0001t0004g0080
a0001c0001t0046g0050
a0001c0007t0004g0079
a0002c0003t0071g0228
a0002c0003t0085g0215
a0004c0010t0027g0110
a0004c0010t0027g0111
 7 HG00741.hp2
HG01106.hp1
HG02258.hp1
others(4): Show 
HG00741.hp2
HG01106.hp1
HG02258.hp1
HG02965.hp1
HG02970.hp2
HG03209.hp1
NA19240.hp2
 intron_variant MODIFIER c.913+14821delT
c.913+14821delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76224703
chr5:76225064 G
G
 A
A
 1 a0003c0004t0058g0051
a0003c0004t0058g0051
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.913+15177G>A
c.913+15177G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76225064
chr5:76225103 T
T
 G
G
 136 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(133): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0024
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0093
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 136 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(133): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG04184.hp1
HG04199.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+15216T>G
c.913+15216T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76225103
chr5:76225292 A
A
 G
G
 1 a0001c0001t0128g0006
a0001c0001t0128g0006
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.913+15405A>G
c.913+15405A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76225292
chr5:76225393 A
A
 C
C
 33 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(30): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0018g0044
a0001c0001t0023g0131
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0042g0072
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0002t0020g0042
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0114g0125
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0002c0003t0072g0143
a0003c0004t0038g0066
 33 HG00140.hp1
HG00280.hp2
HG00423.hp2
others(30): Show 
HG00140.hp1
HG00280.hp2
HG00423.hp2
HG00738.hp2
HG01361.hp2
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG02080.hp2
HG02109.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02735.hp1
HG03195.hp1
HG03486.hp2
HG03540.hp2
NA18945.hp1
NA18952.hp2
NA18955.hp2
NA18968.hp1
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19011.hp2
NA19060.hp2
NA19072.hp2
NA19079.hp2
NA19083.hp2
NA20905.hp2
 intron_variant MODIFIER c.913+15506A>C
c.913+15506A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76225393
chr5:76225412 C
C
 G
G
 16 a0001c0001t0004g0080
a0001c0001t0022g0214
a0001c0001t0046g0050
others(13): Show 
a0001c0001t0004g0080
a0001c0001t0022g0214
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0004g0079
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
a0003c0004t0019g0145
a0003c0004t0058g0051
a0004c0010t0027g0110
a0004c0010t0027g0111
 16 HG00741.hp2
HG01106.hp1
HG02055.hp1
others(13): Show 
HG00741.hp2
HG01106.hp1
HG02055.hp1
HG02083.hp1
HG02258.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03209.hp1
HG03471.hp1
NA19007.hp1
NA19081.hp2
NA19240.hp2
 intron_variant MODIFIER c.913+15525C>G
c.913+15525C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76225412
chr5:76225663 G
G
 A
A
 1 a0002c0003t0021g0103
a0002c0003t0021g0103
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.913+15776G>A
c.913+15776G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76225663
chr5:76225775 A
A
 G
G
 101 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(98): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0042g0072
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 101 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(98): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+15888A>G
c.913+15888A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76225775
chr5:76225849 T
T
 G
G
 1 a0003c0004t0009g0017
a0003c0004t0009g0017
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+15962T>G
c.913+15962T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76225849
chr5:76225894 T
T
 G
G
 16 a0001c0001t0004g0080
a0001c0001t0022g0214
a0001c0001t0046g0050
others(13): Show 
a0001c0001t0004g0080
a0001c0001t0022g0214
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0004g0079
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0008t0002g0216
a0003c0004t0019g0145
a0003c0004t0058g0051
a0004c0010t0027g0110
a0004c0010t0027g0111
 16 HG00741.hp2
HG01106.hp1
HG02055.hp1
others(13): Show 
HG00741.hp2
HG01106.hp1
HG02055.hp1
HG02083.hp1
HG02258.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03209.hp1
HG03471.hp1
NA19007.hp1
NA19081.hp2
NA19240.hp2
 intron_variant MODIFIER c.913+16007T>G
c.913+16007T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76225894
chr5:76225985 G
G
 C
C
 117 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(114): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 117 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(114): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+16098G>C
c.913+16098G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76225985
chr5:76226072 C
C
 G
G
 153 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(150): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 153 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(150): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+16185C>G
c.913+16185C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76226072
chr5:76226155 G
G
 A
A
 117 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(114): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 117 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(114): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+16268G>A
c.913+16268G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76226155
chr5:76226286 T
T
 A
A
 4 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
others(1): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
a0003c0004t0009g0017
 4 HG00733.hp1
HG02630.hp1
HG02717.hp2
others(1): Show 
HG00733.hp1
HG02630.hp1
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+16399T>A
c.913+16399T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76226286
chr5:76226718 G
G
 A
A
 4 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
others(1): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
a0003c0004t0009g0017
 4 HG00733.hp1
HG02630.hp1
HG02717.hp2
others(1): Show 
HG00733.hp1
HG02630.hp1
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+16831G>A
c.913+16831G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76226718
chr5:76226784 C
C
 T
T
 1 a0001c0002t0013g0082
a0001c0002t0013g0082
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.913+16897C>T
c.913+16897C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76226784
chr5:76226794 G
G
 A
A
 9 a0001c0001t0022g0214
a0001c0001t0050g0041
a0001c0001t0125g0007
others(6): Show 
a0001c0001t0022g0214
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0008t0002g0216
a0003c0004t0019g0145
a0003c0004t0058g0051
 9 HG02055.hp1
HG02083.hp1
HG02630.hp2
others(6): Show 
HG02055.hp1
HG02083.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
NA19007.hp1
NA19081.hp2
 intron_variant MODIFIER c.913+16907G>A
c.913+16907G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76226794
chr5:76226882 A
A
 G
G
 1 a0001c0002t0013g0082
a0001c0002t0013g0082
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.913+16995A>G
c.913+16995A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76226882
chr5:76226963 G
G
 A
A
 74 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(71): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0100g0206
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 74 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(71): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18960.hp1
NA18975.hp1
NA18990.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+17076G>A
c.913+17076G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76226963
chr5:76226964 G
G
 A
A
 74 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(71): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0100g0206
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 74 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(71): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18960.hp1
NA18975.hp1
NA18990.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+17077G>A
c.913+17077G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76226964
chr5:76226965 G
G
 C
C
 74 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(71): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0040g0070
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0100g0206
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 74 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(71): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18960.hp1
NA18975.hp1
NA18990.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+17078G>C
c.913+17078G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76226965
chr5:76227052 G
G
 A
A
 6 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
others(3): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0008t0002g0216
 6 HG02055.hp1
HG02630.hp2
HG02818.hp2
others(3): Show 
HG02055.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.913+17165G>A
c.913+17165G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76227052
chr5:76227134 G
G
 A
A
 152 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(149): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 152 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(149): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18945.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+17247G>A
c.913+17247G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76227134
chr5:76227136 G
G
 A
A
 33 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(30): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0018g0044
a0001c0001t0023g0131
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0042g0072
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0002t0020g0042
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0114g0125
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0002c0003t0072g0143
a0002c0003t0086g0088
a0003c0004t0038g0066
 33 HG00140.hp1
HG00280.hp2
HG00423.hp2
others(30): Show 
HG00140.hp1
HG00280.hp2
HG00423.hp2
HG00738.hp2
HG01361.hp2
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG02080.hp2
HG02109.hp2
HG02300.hp2
HG02523.hp1
HG02717.hp1
HG02735.hp1
HG03195.hp1
HG03486.hp2
HG03540.hp2
NA18945.hp1
NA18952.hp2
NA18955.hp2
NA18968.hp1
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19011.hp2
NA19060.hp2
NA19072.hp2
NA19079.hp2
NA19083.hp2
NA20905.hp2
 intron_variant MODIFIER c.913+17249G>A
c.913+17249G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76227136
chr5:76227166 CAGATA
CAGATA
 C
C
 124 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(121): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 124 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(121): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp2
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+17286_913+1729
others(9): Show 
c.913+17286_913+17290delGATAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76227166
chr5:76227274 C
C
 A
A
 5 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(2): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
a0003c0004t0066g0086
 5 HG02886.hp1
HG02895.hp2
HG02896.hp2
others(2): Show 
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.913+17387C>A
c.913+17387C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76227274
chr5:76227369 T
T
 C
C
 16 a0001c0001t0009g0190
a0001c0001t0082g0220
a0001c0001t0122g0011
others(13): Show 
a0001c0001t0009g0190
a0001c0001t0082g0220
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0089g0081
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 16 HG01243.hp2
HG01884.hp1
HG02055.hp2
others(13): Show 
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp2
 intron_variant MODIFIER c.913+17482T>C
c.913+17482T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76227369
chr5:76227562 C
C
 A
A
 1 a0007c0014t0005g0180
a0007c0014t0005g0180
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.913+17675C>A
c.913+17675C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76227562
chr5:76227817 C
C
 G
G
 212 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(209): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 212 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(209): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+17930C>G
c.913+17930C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76227817
chr5:76227839 C
C
 T
T
 1 a0002c0003t0059g0043
a0002c0003t0059g0043
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.913+17952C>T
c.913+17952C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76227839
chr5:76227950 G
G
 A
A
 1 a0003c0004t0140g0163
a0003c0004t0140g0163
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.913+18063G>A
c.913+18063G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76227950
chr5:76227954 A
A
 G
G
 116 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
others(113): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 116 HG00140.hp2
HG00280.hp1
HG00558.hp1
others(113): Show 
HG00140.hp2
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18951.hp2
NA18955.hp1
NA18960.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+18067A>G
c.913+18067A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76227954
chr5:76228034 G
G
 A
A
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.913+18147G>A
c.913+18147G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76228034
chr5:76228048 CTA
CTA
 C
C
 2 a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0001t0135g0198
a0001c0002t0025g0232
 2 HG02809.hp1
NA19030.hp1
HG02809.hp1
NA19030.hp1
 intron_variant MODIFIER c.913+18163_913+1816
others(6): Show 
c.913+18163_913+18164delAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76228048
chr5:76228050 A
A
 C
C
 6 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(3): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0122g0011
a0002c0003t0080g0084
a0002c0003t0129g0188
 6 HG01243.hp2
HG02886.hp1
HG02896.hp2
others(3): Show 
HG01243.hp2
HG02886.hp1
HG02896.hp2
HG03041.hp1
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.913+18163A>C
c.913+18163A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76228050
chr5:76228050 ATCTC
ATCTC
 A
A
 4 a0001c0001t0133g0157
a0001c0002t0029g0141
a0001c0002t0102g0234
others(1): Show 
a0001c0001t0133g0157
a0001c0002t0029g0141
a0001c0002t0102g0234
a0002c0006t0147g0195
 4 HG01255.hp1
HG01496.hp1
HG04204.hp1
others(1): Show 
HG01255.hp1
HG01496.hp1
HG04204.hp1
NA20905.hp1
 intron_variant MODIFIER c.913+18179_913+1818
others(8): Show 
c.913+18179_913+18182delCTCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76228050
chr5:76228102 A
A
 G
G
 1 a0001c0001t0012g0223
a0001c0001t0012g0223
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.913+18215A>G
c.913+18215A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76228102
chr5:76228359 C
C
 G
G
 1 a0001c0002t0064g0038
a0001c0002t0064g0038
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.913+18472C>G
c.913+18472C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76228359
chr5:76228410 A
A
 G
G
 49 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(46): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 49 HG00140.hp2
HG00733.hp1
HG01243.hp2
others(46): Show 
HG00140.hp2
HG00733.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+18523A>G
c.913+18523A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76228410
chr5:76228514 G
G
 T
T
 48 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(45): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 48 HG00140.hp2
HG00733.hp1
HG01243.hp2
others(45): Show 
HG00140.hp2
HG00733.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+18627G>T
c.913+18627G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76228514
chr5:76228545 G
G
 A
A
 1 a0001c0002t0107g0207
a0001c0002t0107g0207
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.913+18658G>A
c.913+18658G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76228545
chr5:76228719 A
A
 G
G
 49 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(46): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 49 HG00140.hp2
HG00733.hp1
HG01243.hp2
others(46): Show 
HG00140.hp2
HG00733.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+18832A>G
c.913+18832A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76228719
chr5:76228749 G
G
 A
A
 49 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(46): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 49 HG00140.hp2
HG00733.hp1
HG01243.hp2
others(46): Show 
HG00140.hp2
HG00733.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+18862G>A
c.913+18862G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76228749
chr5:76228773 C
C
 A
A
 41 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(38): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0059g0043
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00140.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00140.hp2
HG00733.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+18886C>A
c.913+18886C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76228773
chr5:76228788 CATTAAT
CATTAAT
 C
C
 49 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(46): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 49 HG00140.hp2
HG00733.hp1
HG01243.hp2
others(46): Show 
HG00140.hp2
HG00733.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+18906_913+1891
others(10): Show 
c.913+18906_913+18911delATATTA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76228788
chr5:76228830 G
G
 A
A
 11 a0001c0001t0002g0024
a0001c0001t0007g0093
a0001c0001t0011g0040
others(8): Show 
a0001c0001t0002g0024
a0001c0001t0007g0093
a0001c0001t0011g0040
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0117g0012
a0002c0003t0026g0230
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0120g0005
 11 HG01109.hp1
HG01891.hp1
HG02258.hp2
others(8): Show 
HG01109.hp1
HG01891.hp1
HG02258.hp2
HG02723.hp2
HG03041.hp2
HG03130.hp1
HG03540.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.913+18943G>A
c.913+18943G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76228830
chr5:76228870 G
G
 A
A
 6 a0001c0001t0001g0057
a0001c0001t0008g0130
a0001c0001t0054g0063
others(3): Show 
a0001c0001t0001g0057
a0001c0001t0008g0130
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0092g0211
a0001c0002t0112g0116
 6 NA18951.hp2
NA18975.hp1
NA19056.hp2
others(3): Show 
NA18951.hp2
NA18975.hp1
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19088.hp1
 intron_variant MODIFIER c.913+18983G>A
c.913+18983G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76228870
chr5:76228901 T
T
 C
C
 49 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(46): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 49 HG00140.hp2
HG00733.hp1
HG01243.hp2
others(46): Show 
HG00140.hp2
HG00733.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+19014T>C
c.913+19014T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76228901
chr5:76228953 T
T
 C
C
 49 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(46): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 49 HG00140.hp2
HG00733.hp1
HG01243.hp2
others(46): Show 
HG00140.hp2
HG00733.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+19066T>C
c.913+19066T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76228953
chr5:76229062 A
A
 C
C
 49 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(46): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 49 HG00140.hp2
HG00733.hp1
HG01243.hp2
others(46): Show 
HG00140.hp2
HG00733.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+19175A>C
c.913+19175A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229062
chr5:76229099 A
A
 G
G
 49 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(46): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 49 HG00140.hp2
HG00733.hp1
HG01243.hp2
others(46): Show 
HG00140.hp2
HG00733.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+19212A>G
c.913+19212A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229099
chr5:76229152 C
C
 A
A
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.913+19265C>A
c.913+19265C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229152
chr5:76229217 T
T
 C
C
 49 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(46): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 49 HG00140.hp2
HG00733.hp1
HG01243.hp2
others(46): Show 
HG00140.hp2
HG00733.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+19330T>C
c.913+19330T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229217
chr5:76229232 A
A
 G
G
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.913+19345A>G
c.913+19345A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229232
chr5:76229316 T
T
 C
C
 30 a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
others(27): Show 
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0122g0011
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 30 HG00733.hp1
HG01243.hp2
HG01884.hp1
others(27): Show 
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+19429T>C
c.913+19429T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229316
chr5:76229385 T
T
 C
C
 4 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(1): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
 4 HG02886.hp1
HG02896.hp2
HG03209.hp2
others(1): Show 
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.913+19498T>C
c.913+19498T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229385
chr5:76229506 G
G
 C
C
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.913+19619G>C
c.913+19619G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229506
chr5:76229571 T
T
 C
C
 55 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(52): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 55 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(52): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+19684T>C
c.913+19684T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229571
chr5:76229589 T
T
 C
C
 156 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(153): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 156 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(153): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+19702T>C
c.913+19702T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229589
chr5:76229666 G
G
 A
A
 2 a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0037g0194
a0001c0002t0105g0117
 2 HG01109.hp2
HG01515.hp2
HG01109.hp2
HG01515.hp2
 intron_variant MODIFIER c.913+19779G>A
c.913+19779G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229666
chr5:76229674 A
A
 C
C
 37 a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
others(34): Show 
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 37 HG00733.hp1
HG01243.hp2
HG01884.hp1
others(34): Show 
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+19787A>C
c.913+19787A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229674
chr5:76229795 T
T
 C
C
 36 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
others(33): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0005g0099
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0023g0131
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0042g0072
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0098g0113
a0001c0002t0101g0144
a0001c0002t0114g0125
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0002c0003t0033g0169
a0002c0003t0072g0143
a0003c0004t0038g0066
 36 HG00140.hp1
HG00280.hp2
HG00423.hp2
others(33): Show 
HG00140.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00738.hp2
HG01361.hp2
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG02080.hp2
HG02109.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02698.hp1
HG02735.hp1
HG03195.hp1
HG03486.hp2
HG03540.hp2
HG04204.hp2
NA18945.hp1
NA18952.hp2
NA18955.hp2
NA18968.hp1
NA18968.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp2
NA19005.hp1
NA19011.hp2
NA19060.hp2
NA19072.hp2
NA19079.hp2
NA19083.hp2
NA20905.hp2
 intron_variant MODIFIER c.913+19908T>C
c.913+19908T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229795
chr5:76229861 A
A
 G
G
 1 a0001c0001t0002g0023
a0001c0001t0002g0023
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.913+19974A>G
c.913+19974A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229861
chr5:76229891 A
A
 G
G
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20004A>G
c.913+20004A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229891
chr5:76229961 G
G
 A
A
 64 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(61): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 64 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(61): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+20074G>A
c.913+20074G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76229961
chr5:76230033 A
A
 T
T
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20146A>T
c.913+20146A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230033
chr5:76230076 G
G
 T
T
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20189G>T
c.913+20189G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230076
chr5:76230083 C
C
 G
G
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20196C>G
c.913+20196C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230083
chr5:76230101 C
C
 T
T
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20214C>T
c.913+20214C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230101
chr5:76230108 G
G
 C
C
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20221G>C
c.913+20221G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230108
chr5:76230146 G
G
 T
T
 105 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(102): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 105 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(102): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+20259G>T
c.913+20259G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230146
chr5:76230151 C
C
 A
A
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20264C>A
c.913+20264C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230151
chr5:76230237 C
C
 T
T
 6 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
others(3): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0008t0002g0216
 6 HG02055.hp1
HG02630.hp2
HG02818.hp2
others(3): Show 
HG02055.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.913+20350C>T
c.913+20350C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230237
chr5:76230308 A
A
 G
G
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20421A>G
c.913+20421A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230308
chr5:76230320 A
A
 AC
AC
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20433_913+2043
others(5): Show 
c.913+20433_913+20434insC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230320
chr5:76230353 A
A
 G
G
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20466A>G
c.913+20466A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230353
chr5:76230371 A
A
 G
G
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20484A>G
c.913+20484A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230371
chr5:76230499 A
A
 G
G
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20612A>G
c.913+20612A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230499
chr5:76230501 G
G
 A
A
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20614G>A
c.913+20614G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230501
chr5:76230524 C
C
 A
A
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20637C>A
c.913+20637C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230524
chr5:76230535 G
G
 A
A
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20648G>A
c.913+20648G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230535
chr5:76230592 A
A
 T
T
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20705A>T
c.913+20705A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230592
chr5:76230615 A
A
 ACC
ACC
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20729_913+2073
others(6): Show 
c.913+20729_913+20730dupCC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76230615
chr5:76230668 A
A
 C
C
 1 a0001c0001t0003g0096
a0001c0001t0003g0096
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.913+20781A>C
c.913+20781A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230668
chr5:76230696 G
G
 A
A
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20809G>A
c.913+20809G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230696
chr5:76230703 G
G
 C
C
 194 a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
others(191): Show 
a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 194 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(191): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+20816G>C
c.913+20816G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230703
chr5:76230757 G
G
 C
C
 105 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(102): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 105 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(102): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+20870G>C
c.913+20870G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230757
chr5:76230772 G
G
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20885G>A
c.913+20885G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230772
chr5:76230803 G
G
 A
A
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20916G>A
c.913+20916G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230803
chr5:76230804 A
A
 AGAAAAG
AGAAAAG
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20917_913+2091
others(10): Show 
c.913+20917_913+20918insGAAAAG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230804
chr5:76230872 A
A
 G
G
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+20985A>G
c.913+20985A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230872
chr5:76230953 T
T
 G
G
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+21066T>G
c.913+21066T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76230953
chr5:76231097 G
G
 A
A
 64 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(61): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 64 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(61): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+21210G>A
c.913+21210G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231097
chr5:76231106 AT
AT
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+21223delT
c.913+21223delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76231106
chr5:76231134 G
G
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+21247G>A
c.913+21247G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231134
chr5:76231137 A
A
 C
C
 65 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(62): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 65 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(62): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+21250A>C
c.913+21250A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231137
chr5:76231137 A
A
 G
G
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+21250A>G
c.913+21250A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231137
chr5:76231158 C
C
 A
A
 24 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
others(21): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 24 HG00642.hp2
HG01243.hp2
HG01884.hp1
others(21): Show 
HG00642.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA18522.hp2
 intron_variant MODIFIER c.913+21271C>A
c.913+21271C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231158
chr5:76231302 A
A
 G
G
 9 a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0003g0171
others(6): Show 
a0001c0001t0001g0054
a0001c0001t0001g0061
a0001c0001t0003g0171
a0001c0001t0023g0131
a0001c0002t0020g0042
a0001c0009t0031g0184
a0001c0009t0134g0182
a0002c0003t0072g0143
a0003c0004t0038g0066
 9 HG01361.hp2
HG01928.hp2
HG02523.hp2
others(6): Show 
HG01361.hp2
HG01928.hp2
HG02523.hp2
NA18955.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA19072.hp2
NA19079.hp2
 intron_variant MODIFIER c.913+21415A>G
c.913+21415A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231302
chr5:76231372 A
A
 G
G
 15 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0001t0050g0041
others(12): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0017g0030
a0002c0003t0086g0088
a0002c0008t0002g0216
a0003c0004t0009g0017
 15 HG00733.hp1
HG02055.hp1
HG02630.hp1
others(12): Show 
HG00733.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03471.hp1
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+21485A>G
c.913+21485A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231372
chr5:76231377 T
T
 C
C
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+21490T>C
c.913+21490T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231377
chr5:76231395 A
A
 G
G
 64 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(61): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 64 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(61): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+21508A>G
c.913+21508A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231395
chr5:76231397 T
T
 C
C
 2 a0001c0001t0136g0095
a0002c0006t0061g0049
a0001c0001t0136g0095
a0002c0006t0061g0049
 2 HG02080.hp1
NA19001.hp1
HG02080.hp1
NA19001.hp1
 intron_variant MODIFIER c.913+21510T>C
c.913+21510T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231397
chr5:76231432 A
A
 AT
AT
 38 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0013g0085
others(35): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 38 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(35): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+21548dupT
c.913+21548dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76231432
chr5:76231436 A
A
 T
T
 2 a0001c0001t0009g0190
a0001c0002t0100g0206
a0001c0001t0009g0190
a0001c0002t0100g0206
 2 HG02723.hp1
HG02809.hp2
HG02723.hp1
HG02809.hp2
 intron_variant MODIFIER c.913+21549A>T
c.913+21549A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231436
chr5:76231437 T
T
 A
A
 2 a0001c0001t0009g0190
a0001c0002t0100g0206
a0001c0001t0009g0190
a0001c0002t0100g0206
 2 HG02723.hp1
HG02809.hp2
HG02723.hp1
HG02809.hp2
 intron_variant MODIFIER c.913+21550T>A
c.913+21550T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231437
chr5:76231440 A
A
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+21553A>T
c.913+21553A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231440
chr5:76231441 T
T
 A
A
 38 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0013g0085
others(35): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 38 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(35): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+21554T>A
c.913+21554T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231441
chr5:76231442 T
T
 A
A
 2 a0001c0001t0009g0190
a0001c0002t0100g0206
a0001c0001t0009g0190
a0001c0002t0100g0206
 2 HG02723.hp1
HG02809.hp2
HG02723.hp1
HG02809.hp2
 intron_variant MODIFIER c.913+21555T>A
c.913+21555T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231442
chr5:76231526 C
C
 T
T
 1 a0001c0002t0089g0081
a0001c0002t0089g0081
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.913+21639C>T
c.913+21639C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231526
chr5:76231544 G
G
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+21657G>A
c.913+21657G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231544
chr5:76231586 G
G
 C
C
 104 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(101): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 104 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(101): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+21699G>C
c.913+21699G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231586
chr5:76231594 C
C
 A
A
 2 a0001c0002t0064g0038
a0001c0002t0144g0155
a0001c0002t0064g0038
a0001c0002t0144g0155
 2 HG02698.hp2
NA18966.hp2
HG02698.hp2
NA18966.hp2
 intron_variant MODIFIER c.913+21707C>A
c.913+21707C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231594
chr5:76231602 C
C
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+21715C>A
c.913+21715C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231602
chr5:76231622 A
A
 G
G
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+21735A>G
c.913+21735A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231622
chr5:76231683 C
C
 T
T
 2 a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0001t0135g0198
a0001c0002t0025g0232
 2 HG02809.hp1
NA19030.hp1
HG02809.hp1
NA19030.hp1
 intron_variant MODIFIER c.913+21796C>T
c.913+21796C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231683
chr5:76231688 T
T
 C
C
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+21801T>C
c.913+21801T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231688
chr5:76231694 G
G
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+21807G>T
c.913+21807G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231694
chr5:76231723 C
C
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+21836C>T
c.913+21836C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231723
chr5:76231848 T
T
 C
C
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.913+21961T>C
c.913+21961T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231848
chr5:76231934 A
A
 G
G
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+22047A>G
c.913+22047A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231934
chr5:76231969 A
A
 G
G
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+22082A>G
c.913+22082A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76231969
chr5:76232009 T
T
 C
C
 104 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(101): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 104 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(101): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+22122T>C
c.913+22122T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232009
chr5:76232088 C
C
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+22201C>T
c.913+22201C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232088
chr5:76232139 G
G
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+22252G>A
c.913+22252G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232139
chr5:76232194 G
G
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+22307G>A
c.913+22307G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232194
chr5:76232261 C
C
 T
T
 1 a0001c0001t0128g0006
a0001c0001t0128g0006
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.913+22374C>T
c.913+22374C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232261
chr5:76232413 C
C
 G
G
 16 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0001t0050g0041
others(13): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0017g0030
a0002c0003t0086g0088
a0002c0008t0002g0216
a0003c0004t0009g0017
 16 HG00733.hp1
HG02055.hp1
HG02630.hp1
others(13): Show 
HG00733.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03471.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+22526C>G
c.913+22526C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232413
chr5:76232466 G
G
 T
T
 64 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(61): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 64 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(61): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+22579G>T
c.913+22579G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232466
chr5:76232467 C
C
 T
T
 5 a0001c0001t0004g0080
a0001c0001t0046g0050
a0001c0007t0004g0079
others(2): Show 
a0001c0001t0004g0080
a0001c0001t0046g0050
a0001c0007t0004g0079
a0004c0010t0027g0110
a0004c0010t0027g0111
 5 HG00741.hp2
HG01106.hp1
HG02258.hp1
others(2): Show 
HG00741.hp2
HG01106.hp1
HG02258.hp1
HG02965.hp1
NA19240.hp2
 intron_variant MODIFIER c.913+22580C>T
c.913+22580C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232467
chr5:76232607 G
G
 A
A
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+22720G>A
c.913+22720G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232607
chr5:76232726 T
T
 C
C
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+22839T>C
c.913+22839T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232726
chr5:76232760 A
A
 G
G
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.913+22873A>G
c.913+22873A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232760
chr5:76232765 T
T
 A
A
 25 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
others(22): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 25 HG00642.hp2
HG01243.hp2
HG01884.hp1
others(22): Show 
HG00642.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA18522.hp2
 intron_variant MODIFIER c.913+22878T>A
c.913+22878T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232765
chr5:76232773 G
G
 A
A
 1 a0001c0002t0093g0205
a0001c0002t0093g0205
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.913+22886G>A
c.913+22886G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232773
chr5:76232818 A
A
 G
G
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+22931A>G
c.913+22931A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232818
chr5:76232847 T
T
 C
C
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.913+22960T>C
c.913+22960T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232847
chr5:76232850 C
C
 T
T
 45 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(42): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0139g0016
 45 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(42): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19063.hp1
NA19081.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+22963C>T
c.913+22963C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232850
chr5:76232869 T
T
 G
G
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.913+22982T>G
c.913+22982T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232869
chr5:76232870 T
T
 C
C
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.913+22983T>C
c.913+22983T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232870
chr5:76232898 A
A
 C
C
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+23011A>C
c.913+23011A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232898
chr5:76232914 C
C
 T
T
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+23027C>T
c.913+23027C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232914
chr5:76232919 C
C
 T
T
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.913+23032C>T
c.913+23032C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232919
chr5:76232949 C
C
 A
A
 25 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
others(22): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 25 HG00642.hp2
HG01243.hp2
HG01884.hp1
others(22): Show 
HG00642.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA18522.hp2
 intron_variant MODIFIER c.913+23062C>A
c.913+23062C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76232949
chr5:76233039 T
T
 A
A
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+23152T>A
c.913+23152T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233039
chr5:76233088 A
A
 G
G
 1 a0003c0005t0019g0060
a0003c0005t0019g0060
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.913+23201A>G
c.913+23201A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233088
chr5:76233112 T
T
 C
C
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+23225T>C
c.913+23225T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233112
chr5:76233113 G
G
 A
A
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+23226G>A
c.913+23226G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233113
chr5:76233153 A
A
 C
C
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+23266A>C
c.913+23266A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233153
chr5:76233204 G
G
 A
A
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+23317G>A
c.913+23317G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233204
chr5:76233208 A
A
 G
G
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.913+23321A>G
c.913+23321A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233208
chr5:76233252 G
G
 A
A
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+23365G>A
c.913+23365G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233252
chr5:76233373 C
C
 T
T
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+23486C>T
c.913+23486C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233373
chr5:76233423 C
C
 T
T
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+23536C>T
c.913+23536C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233423
chr5:76233446 A
A
 G
G
 1 a0002c0003t0001g0026
a0002c0003t0001g0026
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.913+23559A>G
c.913+23559A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233446
chr5:76233556 G
G
 A
A
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.913+23669G>A
c.913+23669G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233556
chr5:76233608 T
T
 C
C
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+23721T>C
c.913+23721T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233608
chr5:76233753 C
C
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+23866C>T
c.913+23866C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233753
chr5:76233827 T
T
 C
C
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+23940T>C
c.913+23940T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233827
chr5:76233830 C
C
 G
G
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+23943C>G
c.913+23943C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233830
chr5:76233923 C
C
 T
T
 24 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
others(21): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 24 HG00642.hp2
HG01243.hp2
HG01884.hp1
others(21): Show 
HG00642.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA18522.hp2
 intron_variant MODIFIER c.913+24036C>T
c.913+24036C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76233923
chr5:76234079 C
C
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+24192C>T
c.913+24192C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76234079
chr5:76234339 C
C
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+24452C>T
c.913+24452C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76234339
chr5:76234393 G
G
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+24506G>A
c.913+24506G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76234393
chr5:76234443 C
C
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+24556C>T
c.913+24556C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76234443
chr5:76234465 TTCCGGAG
others(7): Show 
TTCCGGAGTTTTTAC
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+24581_913+2459
others(18): Show 
c.913+24581_913+24594delCGGAGTTTTTACTC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76234465
chr5:76234498 T
T
 G
G
 64 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(61): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 64 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(61): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+24611T>G
c.913+24611T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76234498
chr5:76234501 A
A
 G
G
 104 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(101): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 104 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(101): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+24614A>G
c.913+24614A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76234501
chr5:76234558 C
C
 G
G
 64 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(61): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 64 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(61): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+24671C>G
c.913+24671C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76234558
chr5:76234558 C
C
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+24671C>T
c.913+24671C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76234558
chr5:76234623 C
C
 G
G
 24 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
others(21): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 24 HG00642.hp2
HG01243.hp2
HG01884.hp1
others(21): Show 
HG00642.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA18522.hp2
 intron_variant MODIFIER c.913+24736C>G
c.913+24736C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76234623
chr5:76234663 C
C
 G
G
 1 a0001c0002t0064g0038
a0001c0002t0064g0038
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.913+24776C>G
c.913+24776C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76234663
chr5:76234669 C
C
 T
T
 104 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(101): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 104 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(101): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+24782C>T
c.913+24782C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76234669
chr5:76234764 C
C
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+24877C>T
c.913+24877C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76234764
chr5:76234804 G
G
 C
C
 4 a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0150g0191
others(1): Show 
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0150g0191
a0003c0005t0156g0193
 4 HG00280.hp1
HG01109.hp2
HG01168.hp1
others(1): Show 
HG00280.hp1
HG01109.hp2
HG01168.hp1
HG01515.hp2
 intron_variant MODIFIER c.913+24917G>C
c.913+24917G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76234804
chr5:76234971 G
G
 A
A
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.913+25084G>A
c.913+25084G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76234971
chr5:76235117 AT
AT
 A
A
 10 a0001c0001t0004g0080
a0001c0001t0022g0214
a0001c0001t0046g0050
others(7): Show 
a0001c0001t0004g0080
a0001c0001t0022g0214
a0001c0001t0046g0050
a0001c0002t0020g0073
a0001c0007t0004g0079
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0004c0010t0027g0110
a0004c0010t0027g0111
 10 HG00741.hp2
HG01106.hp1
HG02083.hp1
others(7): Show 
HG00741.hp2
HG01106.hp1
HG02083.hp1
HG02258.hp1
HG02965.hp1
NA19007.hp1
NA19063.hp1
NA19072.hp1
NA19081.hp2
NA19240.hp2
 intron_variant MODIFIER c.913+25240delT
c.913+25240delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76235117
chr5:76235180 CA
CA
 C
C
 89 a0001c0001t0001g0027
a0001c0001t0002g0023
a0001c0001t0002g0024
others(86): Show 
a0001c0001t0001g0027
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0025g0231
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 89 HG00140.hp2
HG00423.hp1
HG00735.hp2
others(86): Show 
HG00140.hp2
HG00423.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01261.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02615.hp2
HG02647.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA19007.hp2
NA19011.hp1
NA19056.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+25309delA
c.913+25309delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76235180
chr5:76235180 CAA
CAA
 C
C
 70 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(67): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 70 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(67): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+25308_913+2530
others(6): Show 
c.913+25308_913+25309delAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76235180
chr5:76235180 CAAA
CAAA
 C
C
 35 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
others(32): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 35 HG00642.hp2
HG01243.hp2
HG01884.hp1
others(32): Show 
HG00642.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.913+25307_913+2530
others(7): Show 
c.913+25307_913+25309delAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76235180
chr5:76235216 G
G
 A
A
 11 a0001c0001t0002g0024
a0001c0001t0007g0093
a0001c0001t0011g0040
others(8): Show 
a0001c0001t0002g0024
a0001c0001t0007g0093
a0001c0001t0011g0040
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0117g0012
a0002c0003t0026g0230
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0120g0005
 11 HG01109.hp1
HG01891.hp1
HG02258.hp2
others(8): Show 
HG01109.hp1
HG01891.hp1
HG02258.hp2
HG02723.hp2
HG03041.hp2
HG03130.hp1
HG03540.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.913+25329G>A
c.913+25329G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235216
chr5:76235274 A
A
 G
G
 55 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(52): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 55 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(52): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+25387A>G
c.913+25387A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235274
chr5:76235279 G
G
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+25392G>A
c.913+25392G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235279
chr5:76235304 C
C
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+25417C>T
c.913+25417C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235304
chr5:76235325 G
G
 A
A
 6 a0001c0001t0002g0024
a0001c0001t0007g0093
a0001c0001t0011g0040
others(3): Show 
a0001c0001t0002g0024
a0001c0001t0007g0093
a0001c0001t0011g0040
a0001c0001t0070g0227
a0001c0001t0074g0208
a0002c0003t0026g0230
 6 HG01109.hp1
HG02723.hp2
HG03041.hp2
others(3): Show 
HG01109.hp1
HG02723.hp2
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.913+25438G>A
c.913+25438G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235325
chr5:76235464 T
T
 C
C
 3 a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
 3 HG00642.hp1
HG01074.hp1
homoSapiens_chm13v2.hp1
HG00642.hp1
HG01074.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+25577T>C
c.913+25577T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235464
chr5:76235479 G
G
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+25592G>A
c.913+25592G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235479
chr5:76235578 C
C
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+25691C>T
c.913+25691C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235578
chr5:76235607 G
G
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+25720G>A
c.913+25720G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235607
chr5:76235656 C
C
 G
G
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.913+25769C>G
c.913+25769C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235656
chr5:76235702 TC
TC
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+25816delC
c.913+25816delC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235702
chr5:76235741 T
T
 C
C
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+25854T>C
c.913+25854T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235741
chr5:76235750 A
A
 G
G
 1 a0001c0002t0089g0081
a0001c0002t0089g0081
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.913+25863A>G
c.913+25863A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235750
chr5:76235773 A
A
 AT
AT
 34 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(31): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
 34 HG00642.hp2
HG00733.hp1
HG01433.hp1
others(31): Show 
HG00642.hp2
HG00733.hp1
HG01433.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+25894dupT
c.913+25894dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76235773
chr5:76235784 T
T
 C
C
 25 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
others(22): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 25 HG00642.hp2
HG01243.hp2
HG01884.hp1
others(22): Show 
HG00642.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA18522.hp2
 intron_variant MODIFIER c.913+25897T>C
c.913+25897T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235784
chr5:76235799 CACTT
CACTT
 C
C
 16 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0001t0050g0041
others(13): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0017g0030
a0002c0003t0086g0088
a0002c0008t0002g0216
a0003c0004t0009g0017
 16 HG00733.hp1
HG02055.hp1
HG02630.hp1
others(13): Show 
HG00733.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03471.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+25918_913+2592
others(8): Show 
c.913+25918_913+25921delCTTA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76235799
chr5:76235826 C
C
 T
T
 64 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(61): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 64 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(61): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+25939C>T
c.913+25939C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235826
chr5:76235867 G
G
 A
A
 1 a0001c0001t0003g0170
a0001c0001t0003g0170
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.913+25980G>A
c.913+25980G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235867
chr5:76235913 C
C
 T
T
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA18966.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26026C>T
c.913+26026C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235913
chr5:76235993 A
A
 G
G
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26106A>G
c.913+26106A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76235993
chr5:76236049 A
A
 G
G
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26162A>G
c.913+26162A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236049
chr5:76236097 C
C
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26210C>T
c.913+26210C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236097
chr5:76236113 C
C
 T
T
 1 a0002c0006t0061g0049
a0002c0006t0061g0049
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.913+26226C>T
c.913+26226C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236113
chr5:76236117 A
A
 G
G
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26230A>G
c.913+26230A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236117
chr5:76236157 A
A
 T
T
 1 a0001c0002t0093g0205
a0001c0002t0093g0205
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.913+26270A>T
c.913+26270A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236157
chr5:76236187 C
C
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26300C>A
c.913+26300C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236187
chr5:76236198 G
G
 C
C
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26311G>C
c.913+26311G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236198
chr5:76236233 T
T
 A
A
 3 a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
 3 HG00741.hp1
HG01496.hp2
NA20300.hp2
HG00741.hp1
HG01496.hp2
NA20300.hp2
 intron_variant MODIFIER c.913+26346T>A
c.913+26346T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236233
chr5:76236288 GC
GC
 G
G
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26403delC
c.913+26403delC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76236288
chr5:76236373 G
G
 T
T
 1 a0002c0003t0071g0228
a0002c0003t0071g0228
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.913+26486G>T
c.913+26486G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236373
chr5:76236377 G
G
 A
A
 194 a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
others(191): Show 
a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 194 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(191): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+26490G>A
c.913+26490G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236377
chr5:76236410 G
G
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26523G>A
c.913+26523G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236410
chr5:76236416 T
T
 G
G
 195 a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
others(192): Show 
a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 195 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(192): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+26529T>G
c.913+26529T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236416
chr5:76236439 A
A
 G
G
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26552A>G
c.913+26552A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236439
chr5:76236537 G
G
 T
T
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26650G>T
c.913+26650G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236537
chr5:76236561 C
C
 CAA
CAA
 65 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(62): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 65 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(62): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+26680_913+2668
others(6): Show 
c.913+26680_913+26681dupAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76236561
chr5:76236564 A
A
 G
G
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26677A>G
c.913+26677A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236564
chr5:76236565 AAAAT
AAAAT
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26682_913+2668
others(8): Show 
c.913+26682_913+26685delTAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76236565
chr5:76236574 T
T
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26687T>A
c.913+26687T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236574
chr5:76236581 AAG
AAG
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26708_913+2670
others(6): Show 
c.913+26708_913+26709delGA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76236581
chr5:76236646 G
G
 A
A
 9 a0001c0001t0001g0057
a0001c0001t0008g0130
a0001c0001t0032g0160
others(6): Show 
a0001c0001t0001g0057
a0001c0001t0008g0130
a0001c0001t0032g0160
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0002t0112g0116
a0001c0002t0114g0125
 9 NA18951.hp2
NA18952.hp1
NA18952.hp2
others(6): Show 
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18966.hp1
NA18975.hp1
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19088.hp1
 intron_variant MODIFIER c.913+26759G>A
c.913+26759G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236646
chr5:76236722 T
T
 C
C
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+26835T>C
c.913+26835T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236722
chr5:76236890 G
G
 A
A
 1 a0001c0001t0018g0044
a0001c0001t0018g0044
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.913+27003G>A
c.913+27003G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236890
chr5:76236895 C
C
 A
A
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+27008C>A
c.913+27008C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236895
chr5:76236896 T
T
 C
C
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+27009T>C
c.913+27009T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76236896
chr5:76237043 C
C
 T
T
 17 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
others(14): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0118g0018
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
 17 HG00642.hp2
HG02451.hp1
HG02559.hp2
others(14): Show 
HG00642.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
 intron_variant MODIFIER c.913+27156C>T
c.913+27156C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76237043
chr5:76237134 C
C
 A
A
 2 a0001c0001t0004g0080
a0001c0007t0004g0079
a0001c0001t0004g0080
a0001c0007t0004g0079
 2 HG02965.hp1
NA19240.hp2
HG02965.hp1
NA19240.hp2
 intron_variant MODIFIER c.913+27247C>A
c.913+27247C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76237134
chr5:76237149 A
A
 G
G
 15 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0001t0050g0041
others(12): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0017g0030
a0002c0003t0086g0088
a0002c0008t0002g0216
a0003c0004t0009g0017
 15 HG00733.hp1
HG02055.hp1
HG02630.hp1
others(12): Show 
HG00733.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03471.hp1
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+27262A>G
c.913+27262A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76237149
chr5:76237395 G
G
 A
A
 24 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
others(21): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 24 HG00642.hp2
HG01243.hp2
HG01884.hp1
others(21): Show 
HG00642.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA18522.hp2
 intron_variant MODIFIER c.913+27508G>A
c.913+27508G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76237395
chr5:76237443 G
G
 A
A
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+27556G>A
c.913+27556G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76237443
chr5:76237529 T
T
 G
G
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.913+27642T>G
c.913+27642T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76237529
chr5:76237565 T
T
 C
C
 106 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(103): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 106 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(103): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+27678T>C
c.913+27678T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76237565
chr5:76237572 G
G
 A
A
 25 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
others(22): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 25 HG00642.hp2
HG01243.hp2
HG01884.hp1
others(22): Show 
HG00642.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA18522.hp2
 intron_variant MODIFIER c.913+27685G>A
c.913+27685G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76237572
chr5:76237616 G
G
 A
A
 1 a0001c0001t0043g0028
a0001c0001t0043g0028
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.913+27729G>A
c.913+27729G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76237616
chr5:76237648 T
T
 C
C
 106 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(103): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 106 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(103): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+27761T>C
c.913+27761T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76237648
chr5:76237969 A
A
 AAC
AAC
 2 a0001c0001t0010g0032
a0002c0003t0001g0026
a0001c0001t0010g0032
a0002c0003t0001g0026
 2 HG01433.hp2
NA19011.hp1
HG01433.hp2
NA19011.hp1
 intron_variant MODIFIER c.913+28104_913+2810
others(6): Show 
c.913+28104_913+28105dupCA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76237969
chr5:76237969 A
A
 AACAC
AACAC
 9 a0001c0001t0004g0080
a0001c0001t0022g0214
a0001c0001t0046g0050
others(6): Show 
a0001c0001t0004g0080
a0001c0001t0022g0214
a0001c0001t0046g0050
a0001c0002t0020g0073
a0001c0007t0004g0079
a0003c0004t0019g0145
a0003c0004t0058g0051
a0004c0010t0027g0110
a0004c0010t0027g0111
 9 HG00741.hp2
HG01106.hp1
HG02083.hp1
others(6): Show 
HG00741.hp2
HG01106.hp1
HG02083.hp1
HG02258.hp1
HG02965.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
NA19240.hp2
 intron_variant MODIFIER c.913+28102_913+2810
others(8): Show 
c.913+28102_913+28105dupCACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76237969
chr5:76237969 A
A
 AACACACA
others(1): Show 
AACACACAC
 51 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(48): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 51 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(48): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01515.hp2
HG01891.hp2
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+28098_913+2810
others(12): Show 
c.913+28098_913+28105dupCACACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76237969
chr5:76237969 A
A
 AACACACA
others(3): Show 
AACACACACAC
 3 a0002c0003t0124g0183
a0003c0004t0091g0107
a0003c0005t0019g0060
a0002c0003t0124g0183
a0003c0004t0091g0107
a0003c0005t0019g0060
 3 HG00735.hp1
HG01433.hp1
HG01943.hp1
HG00735.hp1
HG01433.hp1
HG01943.hp1
 intron_variant MODIFIER c.913+28096_913+2810
others(14): Show 
c.913+28096_913+28105dupCACACACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76237969
chr5:76237978 A
A
 T
T
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+28091A>T
c.913+28091A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76237978
chr5:76237989 C
C
 CACACACA
others(3): Show 
CACACACACAT
 1 a0001c0002t0006g0174
a0001c0002t0006g0174
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.913+28105_913+2810
others(14): Show 
c.913+28105_913+28106insCACACATACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76237989
chr5:76237989 CACAT
CACAT
 C
C
 2 a0001c0001t0007g0122
a0001c0001t0088g0123
a0001c0001t0007g0122
a0001c0001t0088g0123
 2 HG02451.hp2
HG02486.hp2
HG02451.hp2
HG02486.hp2
 intron_variant MODIFIER c.913+28120_913+2812
others(8): Show 
c.913+28120_913+28123delCATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76237989
chr5:76237989 CACATACA
others(1): Show 
CACATACAT
 C
C
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+28116_913+2812
others(12): Show 
c.913+28116_913+28123delCATACATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76237989
chr5:76237992 A
A
 G
G
 67 a0001c0001t0001g0027
a0001c0001t0002g0023
a0001c0001t0002g0024
others(64): Show 
a0001c0001t0001g0027
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0130g0010
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0104g0020
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0015t0079g0087
a0002c0003t0026g0230
a0002c0003t0049g0025
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 67 HG00423.hp1
HG00735.hp2
HG00738.hp1
others(64): Show 
HG00423.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02615.hp2
HG02647.hp2
HG02698.hp2
HG02723.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19007.hp2
NA19056.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.913+28105A>G
c.913+28105A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76237992
chr5:76237993 T
T
 C
C
 1 a0001c0002t0110g0124
a0001c0002t0110g0124
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.913+28106T>C
c.913+28106T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76237993
chr5:76237997 T
T
 C
C
 1 a0001c0002t0110g0124
a0001c0002t0110g0124
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.913+28110T>C
c.913+28110T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76237997
chr5:76238011 T
T
 C
C
 1 a0001c0002t0110g0124
a0001c0002t0110g0124
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.913+28124T>C
c.913+28124T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238011
chr5:76238013 C
C
 T
T
 1 a0001c0002t0110g0124
a0001c0002t0110g0124
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.913+28126C>T
c.913+28126C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238013
chr5:76238021 C
C
 T
T
 1 a0001c0002t0110g0124
a0001c0002t0110g0124
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.913+28134C>T
c.913+28134C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238021
chr5:76238025 C
C
 T
T
 1 a0001c0002t0110g0124
a0001c0002t0110g0124
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.913+28138C>T
c.913+28138C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238025
chr5:76238027 T
T
 TAC
TAC
 22 a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0011g0040
others(19): Show 
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0011g0040
a0001c0001t0012g0083
a0001c0001t0043g0028
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0077g0212
a0001c0001t0088g0123
a0001c0001t0126g0172
a0001c0001t0133g0157
a0001c0002t0144g0155
a0001c0009t0031g0184
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0026g0230
a0002c0003t0049g0025
a0002c0003t0087g0021
a0002c0006t0062g0068
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
 22 HG01109.hp1
HG01361.hp2
HG01891.hp1
others(19): Show 
HG01109.hp1
HG01361.hp2
HG01891.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02647.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
HG04204.hp1
NA18522.hp1
NA18906.hp2
NA18992.hp2
NA18998.hp2
 intron_variant MODIFIER c.913+28178_913+2817
others(6): Show 
c.913+28178_913+28179dupCA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238027
chr5:76238027 T
T
 TACAC
TACAC
 41 a0001c0001t0001g0027
a0001c0001t0002g0023
a0001c0001t0002g0024
others(38): Show 
a0001c0001t0001g0027
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0104
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0048g0047
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0117g0012
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0104g0020
a0001c0002t0142g0001
a0001c0002t0148g0158
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0045g0048
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0155g0149
a0006c0012t0035g0153
 41 HG00423.hp1
HG00735.hp2
HG00738.hp1
others(38): Show 
HG00423.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01106.hp2
HG01123.hp2
HG01255.hp1
HG01258.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02109.hp1
HG02257.hp1
HG02258.hp2
HG02300.hp1
HG03704.hp1
HG03704.hp2
HG04184.hp2
HG04228.hp2
NA18906.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18975.hp2
NA19007.hp2
NA19056.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.913+28176_913+2817
others(8): Show 
c.913+28176_913+28179dupCACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238027
chr5:76238027 T
T
 TACACAC
TACACAC
 5 a0001c0001t0003g0185
a0001c0001t0090g0106
a0001c0001t0121g0097
others(2): Show 
a0001c0001t0003g0185
a0001c0001t0090g0106
a0001c0001t0121g0097
a0003c0004t0012g0222
a0003c0005t0034g0173
 5 HG01243.hp1
HG01943.hp2
HG01981.hp1
others(2): Show 
HG01243.hp1
HG01943.hp2
HG01981.hp1
NA19083.hp1
NA19091.hp1
 intron_variant MODIFIER c.913+28174_913+2817
others(10): Show 
c.913+28174_913+28179dupCACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238027
chr5:76238027 T
T
 TACACACA
others(1): Show 
TACACACAC
 3 a0001c0001t0003g0096
a0002c0006t0063g0053
a0005c0011t0143g0015
a0001c0001t0003g0096
a0002c0006t0063g0053
a0005c0011t0143g0015
 3 HG02280.hp2
NA18960.hp2
NA18990.hp2
HG02280.hp2
NA18960.hp2
NA18990.hp2
 intron_variant MODIFIER c.913+28172_913+2817
others(12): Show 
c.913+28172_913+28179dupCACACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238027
chr5:76238027 T
T
 TACACACA
others(3): Show 
TACACACACAC
 1 a0001c0002t0029g0146
a0001c0002t0029g0146
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.913+28170_913+2817
others(14): Show 
c.913+28170_913+28179dupCACACACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238027
chr5:76238027 TAC
TAC
 T
T
 6 a0001c0001t0002g0094
a0001c0001t0005g0099
a0002c0003t0001g0026
others(3): Show 
a0001c0001t0002g0094
a0001c0001t0005g0099
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0006t0094g0142
a0002c0006t0147g0195
 6 HG01496.hp1
HG02015.hp2
HG03195.hp2
others(3): Show 
HG01496.hp1
HG02015.hp2
HG03195.hp2
NA18955.hp1
NA19011.hp1
NA19011.hp2
 intron_variant MODIFIER c.913+28178_913+2817
others(6): Show 
c.913+28178_913+28179delCA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238027
chr5:76238027 TACAC
TACAC
 T
T
 2 a0001c0002t0015g0121
a0001c0002t0064g0038
a0001c0002t0015g0121
a0001c0002t0064g0038
 2 HG04204.hp2
NA18966.hp2
HG04204.hp2
NA18966.hp2
 intron_variant MODIFIER c.913+28176_913+2817
others(8): Show 
c.913+28176_913+28179delCACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238027
chr5:76238027 TACACACA
others(13): Show 
TACACACACACACACACACAC
 T
T
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+28160_913+2817
others(24): Show 
c.913+28160_913+28179delCACACACACACACACACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238027
chr5:76238031 C
C
 T
T
 1 a0001c0002t0009g0186
a0001c0002t0009g0186
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.913+28144C>T
c.913+28144C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238031
chr5:76238041 C
C
 T
T
 1 a0001c0002t0110g0124
a0001c0002t0110g0124
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.913+28154C>T
c.913+28154C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238041
chr5:76238047 CACACACA
others(13): Show 
CACACACACACACACACACAT
 C
C
 5 a0001c0001t0004g0080
a0001c0001t0046g0050
a0001c0007t0004g0079
others(2): Show 
a0001c0001t0004g0080
a0001c0001t0046g0050
a0001c0007t0004g0079
a0004c0010t0027g0110
a0004c0010t0027g0111
 5 HG00741.hp2
HG01106.hp1
HG02258.hp1
others(2): Show 
HG00741.hp2
HG01106.hp1
HG02258.hp1
HG02965.hp1
NA19240.hp2
 intron_variant MODIFIER c.913+28162_913+2818
others(24): Show 
c.913+28162_913+28181delCACACACACACACACACATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238047
chr5:76238051 CACACACA
others(9): Show 
CACACACACACACACAT
 C
C
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.913+28166_913+2818
others(20): Show 
c.913+28166_913+28181delCACACACACACACATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238051
chr5:76238053 C
C
 A
A
 1 a0002c0003t0119g0187
a0002c0003t0119g0187
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.913+28166C>A
c.913+28166C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238053
chr5:76238053 CACACACA
others(7): Show 
CACACACACACACAT
 C
C
 53 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(50): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0111g0133
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 53 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(50): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+28168_913+2818
others(18): Show 
c.913+28168_913+28181delCACACACACACATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238053
chr5:76238055 C
C
 T
T
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+28168C>T
c.913+28168C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238055
chr5:76238055 CACACACA
others(5): Show 
CACACACACACAT
 C
C
 2 a0001c0001t0008g0130
a0001c0002t0112g0116
a0001c0001t0008g0130
a0001c0002t0112g0116
 2 NA19056.hp2
NA19060.hp1
NA19056.hp2
NA19060.hp1
 intron_variant MODIFIER c.913+28170_913+2818
others(16): Show 
c.913+28170_913+28181delCACACACACATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238055
chr5:76238067 T
T
 C
C
 1 a0001c0002t0110g0124
a0001c0002t0110g0124
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.913+28180T>C
c.913+28180T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238067
chr5:76238150 C
C
 G
G
 106 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(103): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 106 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(103): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+28263C>G
c.913+28263C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238150
chr5:76238154 T
T
 C
C
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+28267T>C
c.913+28267T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238154
chr5:76238191 C
C
 T
T
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+28304C>T
c.913+28304C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238191
chr5:76238204 A
A
 G
G
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+28317A>G
c.913+28317A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238204
chr5:76238241 A
A
 G
G
 1 a0001c0002t0150g0191
a0001c0002t0150g0191
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.913+28354A>G
c.913+28354A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238241
chr5:76238304 A
A
 ATG
ATG
 14 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0001t0050g0041
others(11): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0086g0088
a0002c0008t0002g0216
a0003c0004t0009g0017
 14 HG00733.hp1
HG02055.hp1
HG02630.hp1
others(11): Show 
HG00733.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+28431_913+2843
others(6): Show 
c.913+28431_913+28432dupGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238304
chr5:76238304 A
A
 ATGTG
ATGTG
 2 a0001c0002t0093g0205
a0002c0003t0017g0030
a0001c0002t0093g0205
a0002c0003t0017g0030
 2 HG02976.hp2
NA19043.hp1
HG02976.hp2
NA19043.hp1
 intron_variant MODIFIER c.913+28429_913+2843
others(8): Show 
c.913+28429_913+28432dupGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238304
chr5:76238318 GTA
GTA
 G
G
 4 a0001c0001t0004g0219
a0002c0008t0002g0218
a0002c0008t0002g0221
others(1): Show 
a0001c0001t0004g0219
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 4 HG00642.hp2
HG02451.hp1
HG02559.hp2
others(1): Show 
HG00642.hp2
HG02451.hp1
HG02559.hp2
HG02922.hp2
 intron_variant MODIFIER c.913+28433_913+2843
others(6): Show 
c.913+28433_913+28434delAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76238318
chr5:76238320 A
A
 G
G
 37 a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
others(34): Show 
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 37 HG00733.hp1
HG01243.hp2
HG01884.hp1
others(34): Show 
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+28433A>G
c.913+28433A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238320
chr5:76238328 A
A
 G
G
 1 a0001c0002t0107g0207
a0001c0002t0107g0207
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.913+28441A>G
c.913+28441A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238328
chr5:76238336 T
T
 C
C
 5 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
others(2): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
a0001c0002t0089g0081
a0003c0004t0009g0017
 5 HG00733.hp1
HG02630.hp1
HG02717.hp2
others(2): Show 
HG00733.hp1
HG02630.hp1
HG02717.hp2
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+28449T>C
c.913+28449T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238336
chr5:76238436 G
G
 A
A
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.913+28549G>A
c.913+28549G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238436
chr5:76238453 G
G
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+28566G>A
c.913+28566G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238453
chr5:76238470 T
T
 C
C
 61 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(58): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 61 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(58): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+28583T>C
c.913+28583T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238470
chr5:76238559 G
G
 A
A
 4 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
others(1): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
a0003c0004t0009g0017
 4 HG00733.hp1
HG02630.hp1
HG02717.hp2
others(1): Show 
HG00733.hp1
HG02630.hp1
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+28672G>A
c.913+28672G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238559
chr5:76238727 C
C
 T
T
 1 a0001c0002t0029g0146
a0001c0002t0029g0146
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.913+28840C>T
c.913+28840C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238727
chr5:76238745 T
T
 G
G
 100 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(97): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 100 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(97): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+28858T>G
c.913+28858T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238745
chr5:76238984 G
G
 A
A
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.913+29097G>A
c.913+29097G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76238984
chr5:76239075 A
A
 G
G
 1 a0001c0001t0008g0127
a0001c0001t0008g0127
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.913+29188A>G
c.913+29188A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76239075
chr5:76239086 TC
TC
 T
T
 24 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
others(21): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 24 HG00642.hp2
HG01243.hp2
HG01884.hp1
others(21): Show 
HG00642.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA18522.hp2
 intron_variant MODIFIER c.913+29206delC
c.913+29206delC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76239086
chr5:76239494 C
C
 T
T
 3 a0001c0001t0133g0157
a0001c0002t0102g0234
a0002c0006t0147g0195
a0001c0001t0133g0157
a0001c0002t0102g0234
a0002c0006t0147g0195
 3 HG01496.hp1
HG04204.hp1
NA20905.hp1
HG01496.hp1
HG04204.hp1
NA20905.hp1
 intron_variant MODIFIER c.913+29607C>T
c.913+29607C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76239494
chr5:76239601 T
T
 A
A
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.913+29714T>A
c.913+29714T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76239601
chr5:76239733 G
G
 T
T
 1 a0001c0002t0146g0175
a0001c0002t0146g0175
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.913+29846G>T
c.913+29846G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76239733
chr5:76239922 A
A
 G
G
 6 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
others(3): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0008t0002g0216
 6 HG02055.hp1
HG02630.hp2
HG02818.hp2
others(3): Show 
HG02055.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.913+30035A>G
c.913+30035A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76239922
chr5:76240048 C
C
 T
T
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.913+30161C>T
c.913+30161C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76240048
chr5:76240533 T
T
 G
G
 25 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
others(22): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 25 HG00642.hp2
HG01243.hp2
HG01884.hp1
others(22): Show 
HG00642.hp2
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA18522.hp2
 intron_variant MODIFIER c.913+30646T>G
c.913+30646T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76240533
chr5:76240654 C
C
 T
T
 15 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0001t0050g0041
others(12): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0017g0030
a0002c0003t0086g0088
a0002c0008t0002g0216
a0003c0004t0009g0017
 15 HG00733.hp1
HG02055.hp1
HG02630.hp1
others(12): Show 
HG00733.hp1
HG02055.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02976.hp2
HG03471.hp1
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+30767C>T
c.913+30767C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76240654
chr5:76241060 G
G
 T
T
 1 a0003c0005t0019g0060
a0003c0005t0019g0060
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.913+31173G>T
c.913+31173G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76241060
chr5:76241081 C
C
 T
T
 5 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
others(2): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
a0001c0002t0089g0081
a0003c0004t0009g0017
 5 HG00733.hp1
HG02630.hp1
HG02717.hp2
others(2): Show 
HG00733.hp1
HG02630.hp1
HG02717.hp2
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+31194C>T
c.913+31194C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76241081
chr5:76241163 T
T
 G
G
 40 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(37): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 40 HG00642.hp2
HG00733.hp1
HG01243.hp2
others(37): Show 
HG00642.hp2
HG00733.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+31276T>G
c.913+31276T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76241163
chr5:76241182 C
C
 CT
CT
 54 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0007g0122
others(51): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0145g0189
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 54 HG00140.hp2
HG00642.hp2
HG00733.hp1
others(51): Show 
HG00140.hp2
HG00642.hp2
HG00733.hp1
HG01109.hp1
HG01123.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG02015.hp2
HG02055.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+31312dupT
c.913+31312dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76241182
chr5:76241182 C
C
 CTT
CTT
 5 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0106g0210
others(2): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0008t0002g0216
 5 HG02055.hp1
HG02630.hp2
HG02818.hp2
others(2): Show 
HG02055.hp1
HG02630.hp2
HG02818.hp2
HG02922.hp1
HG03471.hp1
 intron_variant MODIFIER c.913+31311_913+3131
others(6): Show 
c.913+31311_913+31312dupTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76241182
chr5:76241182 CT
CT
 C
C
 59 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(56): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0101g0144
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0009t0076g0213
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 59 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(56): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02735.hp1
HG02895.hp2
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+31312delT
c.913+31312delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76241182
chr5:76241205 G
G
 A
A
 2 a0001c0001t0083g0204
a0001c0002t0149g0019
a0001c0001t0083g0204
a0001c0002t0149g0019
 2 HG03486.hp2
HG03540.hp2
HG03486.hp2
HG03540.hp2
 intron_variant MODIFIER c.913+31318G>A
c.913+31318G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76241205
chr5:76241498 T
T
 C
C
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.913+31611T>C
c.913+31611T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76241498
chr5:76241582 A
A
 G
G
 41 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(38): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 41 HG00642.hp2
HG00733.hp1
HG01109.hp1
others(38): Show 
HG00642.hp2
HG00733.hp1
HG01109.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+31695A>G
c.913+31695A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76241582
chr5:76241661 G
G
 T
T
 35 a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
others(32): Show 
a0001c0001t0004g0219
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 35 HG00642.hp2
HG00733.hp1
HG01109.hp1
others(32): Show 
HG00642.hp2
HG00733.hp1
HG01109.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+31774G>T
c.913+31774G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76241661
chr5:76241673 C
C
 A
A
 193 a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
others(190): Show 
a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 193 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(190): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+31786C>A
c.913+31786C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76241673
chr5:76241702 A
A
 C
C
 34 a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0005g0100
others(31): Show 
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0104
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0041g0036
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0014g0134
a0001c0002t0029g0141
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0104g0020
a0001c0002t0142g0001
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0155g0149
a0006c0012t0035g0153
a0007c0014t0005g0180
 34 HG00423.hp1
HG00738.hp1
HG00741.hp1
others(31): Show 
HG00423.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01255.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02257.hp1
HG02300.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp2
NA18951.hp1
NA18960.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19007.hp2
NA19056.hp1
NA19068.hp2
NA19081.hp1
NA19088.hp2
NA19091.hp2
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.913+31815A>C
c.913+31815A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76241702
chr5:76241713 C
C
 T
T
 1 a0001c0002t0089g0081
a0001c0002t0089g0081
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.913+31826C>T
c.913+31826C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76241713
chr5:76241758 C
C
 G
G
 1 a0001c0002t0146g0175
a0001c0002t0146g0175
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.913+31871C>G
c.913+31871C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76241758
chr5:76241853 T
T
 C
C
 5 a0001c0001t0004g0080
a0001c0001t0046g0050
a0001c0007t0004g0079
others(2): Show 
a0001c0001t0004g0080
a0001c0001t0046g0050
a0001c0007t0004g0079
a0004c0010t0027g0110
a0004c0010t0027g0111
 5 HG00741.hp2
HG01106.hp1
HG02258.hp1
others(2): Show 
HG00741.hp2
HG01106.hp1
HG02258.hp1
HG02965.hp1
NA19240.hp2
 intron_variant MODIFIER c.913+31966T>C
c.913+31966T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76241853
chr5:76241887 T
T
 C
C
 1 a0001c0001t0070g0227
a0001c0001t0070g0227
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.913+32000T>C
c.913+32000T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76241887
chr5:76242112 G
G
 C
C
 45 a0001c0001t0001g0027
a0001c0001t0002g0023
a0001c0001t0002g0024
others(42): Show 
a0001c0001t0001g0027
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0003g0170
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0074g0208
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0130g0010
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0009g0186
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0104g0020
a0001c0002t0144g0155
a0001c0015t0079g0087
a0002c0003t0026g0230
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0005t0034g0173
a0005c0011t0143g0015
a0006c0012t0035g0153
 45 HG00733.hp1
HG00735.hp2
HG00738.hp1
others(42): Show 
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01361.hp1
HG01515.hp1
HG01891.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02280.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
HG03540.hp1
HG04184.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18954.hp1
NA18966.hp2
NA19030.hp2
NA19063.hp2
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.913+32225G>C
c.913+32225G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76242112
chr5:76242257 A
A
 G
G
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.913+32370A>G
c.913+32370A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76242257
chr5:76242449 A
A
 G
G
 1 a0001c0001t0005g0100
a0001c0001t0005g0100
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.913+32562A>G
c.913+32562A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76242449
chr5:76242479 C
C
 T
T
 2 a0001c0001t0047g0046
a0001c0001t0130g0010
a0001c0001t0047g0046
a0001c0001t0130g0010
 2 HG02145.hp1
HG02970.hp1
HG02145.hp1
HG02970.hp1
 intron_variant MODIFIER c.913+32592C>T
c.913+32592C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76242479
chr5:76242635 A
A
 G
G
 92 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0219
others(89): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 92 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(89): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+32748A>G
c.913+32748A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76242635
chr5:76242761 G
G
 A
A
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.913+32874G>A
c.913+32874G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76242761
chr5:76242836 T
T
 C
C
 34 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
others(31): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0007g0122
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0088g0123
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0138g0150
a0001c0002t0020g0073
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0004c0010t0027g0110
a0004c0010t0027g0111
 34 HG00140.hp2
HG00741.hp2
HG01106.hp1
others(31): Show 
HG00140.hp2
HG00741.hp2
HG01106.hp1
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02647.hp2
HG02735.hp2
HG02738.hp1
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18955.hp1
NA19007.hp1
NA19011.hp1
NA19043.hp1
NA19063.hp1
NA19081.hp2
NA19240.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+32949T>C
c.913+32949T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76242836
chr5:76242864 A
A
 C
C
 34 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
others(31): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0007g0122
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0088g0123
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0138g0150
a0001c0002t0020g0073
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0004c0010t0027g0110
a0004c0010t0027g0111
 34 HG00140.hp2
HG00741.hp2
HG01106.hp1
others(31): Show 
HG00140.hp2
HG00741.hp2
HG01106.hp1
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02647.hp2
HG02735.hp2
HG02738.hp1
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18955.hp1
NA19007.hp1
NA19011.hp1
NA19043.hp1
NA19063.hp1
NA19081.hp2
NA19240.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+32977A>C
c.913+32977A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76242864
chr5:76242953 G
G
 A
A
 4 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0132g0009
others(1): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0132g0009
a0002c0003t0013g0226
 4 HG01884.hp2
HG02896.hp1
HG02965.hp2
others(1): Show 
HG01884.hp2
HG02896.hp1
HG02965.hp2
HG03195.hp2
 intron_variant MODIFIER c.913+33066G>A
c.913+33066G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76242953
chr5:76243001 G
G
 A
A
 26 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
others(23): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0082g0220
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0139g0016
 26 HG00642.hp2
HG01109.hp1
HG01243.hp2
others(23): Show 
HG00642.hp2
HG01109.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA18522.hp2
 intron_variant MODIFIER c.913+33114G>A
c.913+33114G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76243001
chr5:76243012 T
T
 TA
TA
 8 a0001c0001t0007g0122
a0001c0001t0032g0004
a0001c0001t0042g0072
others(5): Show 
a0001c0001t0007g0122
a0001c0001t0032g0004
a0001c0001t0042g0072
a0001c0002t0149g0019
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
 8 HG00423.hp2
HG01361.hp2
HG01928.hp2
others(5): Show 
HG00423.hp2
HG01361.hp2
HG01928.hp2
HG02486.hp2
HG03195.hp1
HG03540.hp2
NA18998.hp2
NA19083.hp2
 intron_variant MODIFIER c.913+33153dupA
c.913+33153dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76243012
chr5:76243012 T
T
 TAAAAAAA
others(13): Show 
TAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0082g0220
a0001c0001t0082g0220
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.913+33134_913+3315
others(24): Show 
c.913+33134_913+33153dupAAAAAAAAAAAAAAAAAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76243012
chr5:76243012 T
T
 TAAAAAAA
others(14): Show 
TAAAAAAAAAAAAAAAAAAAAA
 1 a0003c0004t0057g0071
a0003c0004t0057g0071
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.913+33133_913+3315
others(25): Show 
c.913+33133_913+33153dupAAAAAAAAAAAAAAAAAAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76243012
chr5:76243012 TA
TA
 T
T
 27 a0001c0001t0001g0054
a0001c0001t0001g0059
a0001c0001t0001g0061
others(24): Show 
a0001c0001t0001g0054
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0098
a0001c0001t0003g0171
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0024g0201
a0001c0001t0040g0070
a0001c0001t0047g0046
a0001c0001t0051g0035
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0036g0014
a0001c0002t0089g0081
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0144g0155
a0002c0003t0026g0230
a0002c0006t0061g0049
a0003c0004t0009g0017
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0155g0149
 27 HG00733.hp1
HG00741.hp1
HG01261.hp2
others(24): Show 
HG00733.hp1
HG00741.hp1
HG01261.hp2
HG01496.hp2
HG02080.hp1
HG02280.hp1
HG02523.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02970.hp1
HG03041.hp2
HG04199.hp2
NA18522.hp1
NA18945.hp2
NA18954.hp1
NA18955.hp2
NA18975.hp2
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19068.hp2
NA19091.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+33153delA
c.913+33153delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76243012
chr5:76243012 TAA
TAA
 T
T
 92 a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0002g0024
others(89): Show 
a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0170
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0041g0036
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 92 HG00280.hp1
HG00423.hp1
HG00558.hp1
others(89): Show 
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01261.hp1
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01515.hp2
HG01891.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02738.hp2
HG02818.hp2
HG02922.hp1
HG02976.hp2
HG03130.hp1
HG03471.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+33152_913+3315
others(6): Show 
c.913+33152_913+33153delAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76243012
chr5:76243012 TAAA
TAAA
 T
T
 36 a0001c0001t0002g0023
a0001c0001t0004g0219
a0001c0001t0004g0229
others(33): Show 
a0001c0001t0002g0023
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0083
a0001c0001t0048g0047
a0001c0001t0070g0227
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
a0003c0004t0139g0016
a0005c0011t0143g0015
 36 HG00642.hp2
HG00735.hp2
HG01109.hp1
others(33): Show 
HG00642.hp2
HG00735.hp2
HG01109.hp1
HG01891.hp2
HG02015.hp2
HG02109.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
NA18522.hp2
NA18955.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp2
NA19083.hp1
NA21309.hp1
 intron_variant MODIFIER c.913+33151_913+3315
others(7): Show 
c.913+33151_913+33153delAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76243012
chr5:76243012 TAAAA
TAAAA
 T
T
 17 a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0013g0085
others(14): Show 
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0025g0231
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0117g0012
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0138g0150
a0001c0002t0152g0199
a0001c0002t0154g0197
a0001c0007t0004g0079
a0002c0003t0080g0084
a0003c0004t0066g0086
 17 HG00140.hp2
HG01258.hp2
HG01884.hp2
others(14): Show 
HG00140.hp2
HG01258.hp2
HG01884.hp2
HG02258.hp2
HG02559.hp1
HG02738.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03486.hp1
HG04199.hp1
NA19240.hp2
 intron_variant MODIFIER c.913+33150_913+3315
others(8): Show 
c.913+33150_913+33153delAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76243012
chr5:76243012 TAAAAA
TAAAAA
 T
T
 7 a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0002t0096g0112
others(4): Show 
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0002t0096g0112
a0001c0002t0153g0200
a0002c0003t0013g0226
a0004c0010t0027g0110
a0004c0010t0027g0111
 7 HG00741.hp2
HG01106.hp1
HG01256.hp1
others(4): Show 
HG00741.hp2
HG01106.hp1
HG01256.hp1
HG02258.hp1
HG02735.hp2
HG02896.hp1
HG03834.hp1
 intron_variant MODIFIER c.913+33149_913+3315
others(9): Show 
c.913+33149_913+33153delAAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76243012
chr5:76243012 TAAAAAAA
others(4): Show 
TAAAAAAAAAAA
 T
T
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.913+33143_913+3315
others(15): Show 
c.913+33143_913+33153delAAAAAAAAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76243012
chr5:76243024 A
A
 G
G
 1 a0001c0001t0074g0208
a0001c0001t0074g0208
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.913+33137A>G
c.913+33137A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76243024
chr5:76243043 CAAAA
CAAAA
 C
C
 4 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(1): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
 4 HG02886.hp1
HG02896.hp2
HG03209.hp2
others(1): Show 
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.913+33158_913+3316
others(8): Show 
c.913+33158_913+33161delAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76243043
chr5:76243068 G
G
 A
A
 35 a0001c0001t0001g0039
a0001c0001t0002g0094
a0001c0001t0002g0224
others(32): Show 
a0001c0001t0001g0039
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0007g0122
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0088g0123
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0138g0150
a0001c0002t0020g0073
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0058g0051
a0004c0010t0027g0110
a0004c0010t0027g0111
 35 HG00140.hp2
HG00741.hp2
HG01106.hp1
others(32): Show 
HG00140.hp2
HG00741.hp2
HG01106.hp1
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG01928.hp1
HG02015.hp2
HG02083.hp1
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02647.hp2
HG02735.hp2
HG02738.hp1
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18955.hp1
NA19007.hp1
NA19011.hp1
NA19043.hp1
NA19063.hp1
NA19081.hp2
NA19240.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+33181G>A
c.913+33181G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76243068
chr5:76243078 G
G
 T
T
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.913+33191G>T
c.913+33191G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76243078
chr5:76243120 C
C
 T
T
 2 a0001c0002t0093g0205
a0002c0003t0049g0025
a0001c0002t0093g0205
a0002c0003t0049g0025
 2 HG02647.hp2
NA19043.hp1
HG02647.hp2
NA19043.hp1
 intron_variant MODIFIER c.913+33233C>T
c.913+33233C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76243120
chr5:76243224 G
G
 A
A
 1 a0001c0002t0093g0205
a0001c0002t0093g0205
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.913+33337G>A
c.913+33337G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76243224
chr5:76243305 G
G
 T
T
 2 a0001c0001t0023g0131
a0001c0002t0020g0042
a0001c0001t0023g0131
a0001c0002t0020g0042
 2 NA19072.hp2
NA19079.hp2
NA19072.hp2
NA19079.hp2
 intron_variant MODIFIER c.913+33418G>T
c.913+33418G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76243305
chr5:76243341 G
G
 A
A
 1 a0001c0002t0099g0132
a0001c0002t0099g0132
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.913+33454G>A
c.913+33454G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76243341
chr5:76243352 A
A
 C
C
 1 a0001c0001t0003g0098
a0001c0001t0003g0098
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.913+33465A>C
c.913+33465A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76243352
chr5:76243449 C
C
 T
T
 55 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(52): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 55 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(52): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+33562C>T
c.913+33562C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76243449
chr5:76243485 G
G
 C
C
 55 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(52): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 55 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(52): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+33598G>C
c.913+33598G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76243485
chr5:76243804 C
C
 A
A
 4 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
others(1): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
a0003c0004t0009g0017
 4 HG00733.hp1
HG02630.hp1
HG02717.hp2
others(1): Show 
HG00733.hp1
HG02630.hp1
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.913+33917C>A
c.913+33917C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76243804
chr5:76243894 C
C
 T
T
 4 a0001c0002t0108g0120
a0003c0005t0030g0137
a0003c0005t0113g0140
others(1): Show 
a0001c0002t0108g0120
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
 4 HG00642.hp1
HG01074.hp1
HG02602.hp2
others(1): Show 
HG00642.hp1
HG01074.hp1
HG02602.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+34007C>T
c.913+34007C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76243894
chr5:76243975 C
C
 T
T
 66 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(63): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 66 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(63): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+34088C>T
c.913+34088C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76243975
chr5:76244002 T
T
 C
C
 1 a0001c0002t0099g0132
a0001c0002t0099g0132
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.913+34115T>C
c.913+34115T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76244002
chr5:76244068 C
C
 G
G
 3 a0001c0001t0133g0157
a0001c0002t0102g0234
a0002c0006t0147g0195
a0001c0001t0133g0157
a0001c0002t0102g0234
a0002c0006t0147g0195
 3 HG01496.hp1
HG04204.hp1
NA20905.hp1
HG01496.hp1
HG04204.hp1
NA20905.hp1
 intron_variant MODIFIER c.913+34181C>G
c.913+34181C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76244068
chr5:76244145 G
G
 A
A
 1 a0002c0006t0061g0049
a0002c0006t0061g0049
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.913+34258G>A
c.913+34258G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76244145
chr5:76244185 A
A
 G
G
 9 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0135g0198
others(6): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0008t0002g0216
 9 HG02055.hp1
HG02630.hp2
HG02809.hp1
others(6): Show 
HG02055.hp1
HG02630.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.913+34298A>G
c.913+34298A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76244185
chr5:76244201 C
C
 T
T
 1 a0001c0001t0081g0202
a0001c0001t0081g0202
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.913+34314C>T
c.913+34314C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76244201
chr5:76244202 G
G
 A
A
 55 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(52): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 55 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(52): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+34315G>A
c.913+34315G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76244202
chr5:76244256 T
T
 C
C
 4 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(1): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
 4 HG02886.hp1
HG02896.hp2
HG03209.hp2
others(1): Show 
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.913+34369T>C
c.913+34369T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76244256
chr5:76244290 T
T
 C
C
 52 a0001c0001t0001g0027
a0001c0001t0002g0023
a0001c0001t0003g0096
others(49): Show 
a0001c0001t0001g0027
a0001c0001t0002g0023
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0104
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0041g0036
a0001c0001t0048g0047
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0121g0097
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0104g0020
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0015t0079g0087
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 52 HG00423.hp1
HG00735.hp2
HG00738.hp1
others(49): Show 
HG00423.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02109.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02615.hp2
HG02698.hp2
HG03225.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp2
HG04228.hp1
HG04228.hp2
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19007.hp2
NA19056.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.913+34403T>C
c.913+34403T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76244290
chr5:76244373 A
A
 G
G
 10 a0001c0001t0002g0024
a0001c0001t0007g0093
a0001c0001t0011g0040
others(7): Show 
a0001c0001t0002g0024
a0001c0001t0007g0093
a0001c0001t0011g0040
a0001c0001t0074g0208
a0001c0001t0117g0012
a0002c0003t0026g0230
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0120g0005
 10 HG01891.hp1
HG02258.hp2
HG02723.hp2
others(7): Show 
HG01891.hp1
HG02258.hp2
HG02723.hp2
HG03041.hp2
HG03130.hp1
HG03540.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.913+34486A>G
c.913+34486A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76244373
chr5:76244393 A
A
 T
T
 1 a0002c0008t0002g0218
a0002c0008t0002g0218
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.913+34506A>T
c.913+34506A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76244393
chr5:76244444 C
C
 A
A
 1 a0001c0001t0128g0006
a0001c0001t0128g0006
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.913+34557C>A
c.913+34557C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76244444
chr5:76244598 T
T
 C
C
 1 a0001c0002t0148g0158
a0001c0002t0148g0158
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.913+34711T>C
c.913+34711T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76244598
chr5:76245016 T
T
 C
C
 56 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(53): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 56 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(53): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG02895.hp2
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+35129T>C
c.913+35129T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76245016
chr5:76245065 G
G
 A
A
 95 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
others(92): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 95 HG00140.hp2
HG00280.hp1
HG00558.hp1
others(92): Show 
HG00140.hp2
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+35178G>A
c.913+35178G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76245065
chr5:76245226 C
C
 A
A
 1 a0001c0002t0009g0186
a0001c0002t0009g0186
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.913+35339C>A
c.913+35339C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76245226
chr5:76245287 G
G
 A
A
 1 a0001c0001t0009g0190
a0001c0001t0009g0190
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.913+35400G>A
c.913+35400G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76245287
chr5:76245345 G
G
 A
A
 15 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
others(12): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
a0001c0001t0118g0018
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
 15 HG00642.hp2
HG01109.hp1
HG02451.hp1
others(12): Show 
HG00642.hp2
HG01109.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02886.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.913+35458G>A
c.913+35458G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76245345
chr5:76245358 G
G
 T
T
 95 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
others(92): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 95 HG00140.hp2
HG00280.hp1
HG00558.hp1
others(92): Show 
HG00140.hp2
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+35471G>T
c.913+35471G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76245358
chr5:76245439 T
T
 C
C
 1 a0001c0002t0144g0155
a0001c0002t0144g0155
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.913+35552T>C
c.913+35552T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76245439
chr5:76245457 G
G
 A
A
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.913+35570G>A
c.913+35570G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76245457
chr5:76245851 A
A
 C
C
 4 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(1): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
 4 HG02886.hp1
HG02896.hp2
HG03209.hp2
others(1): Show 
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.913+35964A>C
c.913+35964A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76245851
chr5:76245911 AGT
AGT
 A
A
 44 a0001c0001t0001g0027
a0001c0001t0002g0023
a0001c0001t0002g0024
others(41): Show 
a0001c0001t0001g0027
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0003g0170
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0074g0208
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0130g0010
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0009g0186
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0104g0020
a0001c0002t0144g0155
a0001c0015t0079g0087
a0002c0003t0026g0230
a0003c0004t0012g0222
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0005t0034g0173
a0005c0011t0143g0015
a0006c0012t0035g0153
 44 HG00733.hp1
HG00735.hp2
HG00738.hp1
others(41): Show 
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01361.hp1
HG01515.hp1
HG01891.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02280.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp1
HG03540.hp1
HG04184.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18954.hp1
NA18966.hp2
NA19030.hp2
NA19063.hp2
NA19083.hp1
NA19084.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.913+36047_913+3604
others(6): Show 
c.913+36047_913+36048delGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76245911
chr5:76245911 AGTGT
AGTGT
 A
A
 44 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0008g0127
others(41): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 44 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(41): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+36045_913+3604
others(8): Show 
c.913+36045_913+36048delGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76245911
chr5:76245922 G
G
 GTGTGTGT
others(11): Show 
GTGTGTGTGTGTATGTGTA
 10 a0001c0001t0013g0085
a0001c0001t0050g0041
a0001c0001t0065g0233
others(7): Show 
a0001c0001t0013g0085
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0125g0007
a0001c0002t0093g0205
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0080g0084
a0002c0008t0002g0216
 10 HG02055.hp1
HG02630.hp2
HG02818.hp2
others(7): Show 
HG02055.hp1
HG02630.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02922.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp1
NA19043.hp1
 intron_variant MODIFIER c.913+36046_913+3604
others(22): Show 
c.913+36046_913+36047insATGTGTATGTGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76245922
chr5:76245922 G
G
 GTGTGTGT
others(19): Show 
GTGTGTGTGTGTGTGTGTGTATGTGTA
 1 a0001c0001t0070g0227
a0001c0001t0070g0227
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.913+36048_913+3604
others(30): Show 
c.913+36048_913+36049insGTGTGTATGTGTATGTGTGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76245922
chr5:76245924 G
G
 GTGTGTGT
others(9): Show 
GTGTGTGTGTATGTGTA
 1 a0001c0002t0103g0148
a0001c0002t0103g0148
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.913+36046_913+3604
others(20): Show 
c.913+36046_913+36047insATGTGTATGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76245924
chr5:76245926 G
G
 GTGTGTGT
others(7): Show 
GTGTGTGTATGTGTA
 2 a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0001t0135g0198
a0001c0002t0025g0232
 2 HG02809.hp1
NA19030.hp1
HG02809.hp1
NA19030.hp1
 intron_variant MODIFIER c.913+36046_913+3604
others(18): Show 
c.913+36046_913+36047insATGTGTATGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76245926
chr5:76245926 G
G
 GTGTGTGT
others(11): Show 
GTGTGTGTGTGTATGTGTA
 4 a0001c0001t0004g0219
a0002c0008t0002g0218
a0002c0008t0002g0221
others(1): Show 
a0001c0001t0004g0219
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 4 HG00642.hp2
HG02451.hp1
HG02559.hp2
others(1): Show 
HG00642.hp2
HG02451.hp1
HG02559.hp2
HG02922.hp2
 intron_variant MODIFIER c.913+36048_913+3604
others(22): Show 
c.913+36048_913+36049insGTATGTGTATGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76245926
chr5:76245928 G
G
 GTGTGTGT
others(9): Show 
GTGTGTGTGTATGTGTA
 8 a0001c0001t0009g0190
a0001c0002t0100g0206
a0001c0007t0007g0078
others(5): Show 
a0001c0001t0009g0190
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0003c0004t0026g0147
 8 HG02572.hp1
HG02615.hp1
HG02723.hp1
others(5): Show 
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02970.hp2
HG02976.hp1
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.913+36048_913+3604
others(20): Show 
c.913+36048_913+36049insGTATGTGTATGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76245928
chr5:76245928 G
G
 GTGTGTGT
others(11): Show 
GTGTGTGTGTGTATGTGTA
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.913+36048_913+3604
others(22): Show 
c.913+36048_913+36049insGTGTATGTGTATGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76245928
chr5:76245932 G
G
 A
A
 2 a0001c0002t0014g0136
a0001c0002t0150g0191
a0001c0002t0014g0136
a0001c0002t0150g0191
 2 HG01168.hp1
HG01168.hp2
HG01168.hp1
HG01168.hp2
 intron_variant MODIFIER c.913+36045G>A
c.913+36045G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76245932
chr5:76245934 G
G
 A
A
 35 a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0004g0080
others(32): Show 
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0004g0080
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0104
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0046g0050
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0020g0073
a0001c0002t0097g0114
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0007t0004g0079
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 35 HG00423.hp1
HG00741.hp1
HG00741.hp2
others(32): Show 
HG00423.hp1
HG00741.hp1
HG00741.hp2
HG01106.hp1
HG01496.hp2
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp1
HG02965.hp1
HG03130.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
NA18951.hp1
NA18954.hp2
NA18960.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19007.hp1
NA19007.hp2
NA19056.hp1
NA19063.hp1
NA19068.hp2
NA19081.hp1
NA19081.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.913+36047G>A
c.913+36047G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76245934
chr5:76245936 A
A
 ATG
ATG
 10 a0001c0001t0007g0122
a0001c0001t0082g0220
a0001c0001t0088g0123
others(7): Show 
a0001c0001t0007g0122
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0122g0011
a0001c0001t0133g0157
a0001c0001t0141g0013
a0001c0002t0102g0234
a0002c0003t0129g0188
a0003c0004t0057g0071
a0003c0004t0139g0016
 10 HG01243.hp2
HG01884.hp1
HG02055.hp2
others(7): Show 
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02451.hp2
HG02486.hp2
HG02818.hp1
HG03041.hp1
HG04204.hp1
NA18522.hp2
NA20905.hp1
 intron_variant MODIFIER c.913+36075_913+3607
others(6): Show 
c.913+36075_913+36076dupGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76245936
chr5:76245936 A
A
 ATGTG
ATGTG
 19 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0025g0231
others(16): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0138g0150
a0001c0002t0096g0112
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0094g0142
 19 HG00140.hp2
HG01256.hp1
HG01258.hp2
others(16): Show 
HG00140.hp2
HG01256.hp1
HG01258.hp2
HG01884.hp2
HG02015.hp2
HG02559.hp1
HG02647.hp2
HG02735.hp2
HG02738.hp1
HG02896.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
NA18955.hp1
NA19011.hp1
 intron_variant MODIFIER c.913+36073_913+3607
others(8): Show 
c.913+36073_913+36076dupGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76245936
chr5:76245936 A
A
 ATGTGTAT
others(7): Show 
ATGTGTATGTGTGTG
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.913+36054_913+3605
others(18): Show 
c.913+36054_913+36055insATGTGTGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76245936
chr5:76245936 A
A
 G
G
 66 a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0004g0080
others(63): Show 
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0104
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0007t0004g0079
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0058g0051
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0007c0014t0005g0180
 66 HG00423.hp1
HG00642.hp2
HG00741.hp1
others(63): Show 
HG00423.hp1
HG00642.hp2
HG00741.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01981.hp1
HG02015.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp2
NA18951.hp1
NA18954.hp2
NA18960.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19007.hp1
NA19007.hp2
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19063.hp1
NA19068.hp2
NA19081.hp1
NA19081.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.913+36049A>G
c.913+36049A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76245936
chr5:76245986 G
G
 A
A
 124 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
others(121): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 124 HG00140.hp2
HG00280.hp1
HG00558.hp1
others(121): Show 
HG00140.hp2
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.913+36099G>A
c.913+36099G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76245986
chr5:76246123 G
G
 T
T
 1 a0001c0002t0025g0232
a0001c0002t0025g0232
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.913+36236G>T
c.913+36236G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76246123
chr5:76246865 T
T
 A
A
 15 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
others(12): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
a0001c0001t0118g0018
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
 15 HG00642.hp2
HG01109.hp1
HG02451.hp1
others(12): Show 
HG00642.hp2
HG01109.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02886.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.913+36978T>A
c.913+36978T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76246865
chr5:76247110 T
T
 C
C
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.913+37223T>C
c.913+37223T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76247110
chr5:76247303 AC
AC
 A
A
 10 a0001c0001t0017g0034
a0001c0001t0041g0036
a0001c0002t0006g0156
others(7): Show 
a0001c0001t0017g0034
a0001c0001t0041g0036
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0029g0141
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0104g0020
a0006c0012t0035g0153
 10 HG00738.hp1
HG01074.hp2
HG01106.hp2
others(7): Show 
HG00738.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01255.hp1
HG01361.hp1
HG01515.hp1
HG02257.hp1
HG04184.hp2
NA20805.hp2
 intron_variant MODIFIER c.913+37417delC
c.913+37417delC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76247303
chr5:76247518 G
G
 A
A
 1 a0002c0006t0094g0142
a0002c0006t0094g0142
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.913+37631G>A
c.913+37631G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76247518
chr5:76247595 G
G
 C
C
 1 a0001c0001t0074g0208
a0001c0001t0074g0208
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.914-37567G>C
c.914-37567G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76247595
chr5:76247602 A
A
 G
G
 14 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
others(11): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
 14 HG00642.hp2
HG01109.hp1
HG02451.hp1
others(11): Show 
HG00642.hp2
HG01109.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.914-37560A>G
c.914-37560A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76247602
chr5:76247641 G
G
 T
T
 15 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
others(12): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
a0001c0001t0118g0018
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
 15 HG00642.hp2
HG01109.hp1
HG02451.hp1
others(12): Show 
HG00642.hp2
HG01109.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02886.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.914-37521G>T
c.914-37521G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76247641
chr5:76247680 T
T
 C
C
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.914-37482T>C
c.914-37482T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76247680
chr5:76247928 G
G
 A
A
 1 a0001c0002t0111g0133
a0001c0002t0111g0133
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.914-37234G>A
c.914-37234G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76247928
chr5:76248104 T
T
 C
C
 48 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0008g0127
others(45): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 48 HG00280.hp1
HG00423.hp1
HG00558.hp1
others(45): Show 
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-37058T>C
c.914-37058T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76248104
chr5:76248113 A
A
 C
C
 1 a0001c0001t0032g0160
a0001c0001t0032g0160
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.914-37049A>C
c.914-37049A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76248113
chr5:76248210 G
G
 A
A
 3 a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0035g0178
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0035g0178
 3 HG00738.hp1
HG01123.hp2
HG02257.hp1
HG00738.hp1
HG01123.hp2
HG02257.hp1
 intron_variant MODIFIER c.914-36952G>A
c.914-36952G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76248210
chr5:76248258 T
T
 C
C
 58 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(55): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 58 HG00280.hp1
HG00423.hp1
HG00558.hp1
others(55): Show 
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02717.hp1
HG02738.hp2
HG02895.hp2
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-36904T>C
c.914-36904T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76248258
chr5:76248420 A
A
 G
G
 2 a0001c0001t0122g0011
a0002c0003t0129g0188
a0001c0001t0122g0011
a0002c0003t0129g0188
 2 HG01243.hp2
HG03041.hp1
HG01243.hp2
HG03041.hp1
 intron_variant MODIFIER c.914-36742A>G
c.914-36742A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76248420
chr5:76248427 C
C
 G
G
 2 a0001c0002t0102g0234
a0002c0006t0147g0195
a0001c0002t0102g0234
a0002c0006t0147g0195
 2 HG01496.hp1
NA20905.hp1
HG01496.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-36735C>G
c.914-36735C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76248427
chr5:76248448 C
C
 T
T
 1 a0001c0001t0130g0010
a0001c0001t0130g0010
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.914-36714C>T
c.914-36714C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76248448
chr5:76248620 G
G
 C
C
 14 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
others(11): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
a0001c0001t0118g0018
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
 14 HG00642.hp2
HG01109.hp1
HG02451.hp1
others(11): Show 
HG00642.hp2
HG01109.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02886.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.914-36542G>C
c.914-36542G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76248620
chr5:76248623 A
A
 AT
AT
 62 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(59): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 62 HG00280.hp1
HG00423.hp1
HG00558.hp1
others(59): Show 
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02717.hp1
HG02738.hp2
HG02895.hp2
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG04184.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-36524dupT
c.914-36524dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76248623
chr5:76248657 C
C
 T
T
 30 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(27): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0122g0011
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0057g0071
a0003c0004t0139g0016
 30 HG00140.hp2
HG01243.hp2
HG01256.hp1
others(27): Show 
HG00140.hp2
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19011.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-36505C>T
c.914-36505C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76248657
chr5:76248713 A
A
 G
G
 126 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
others(123): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 126 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(123): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-36449A>G
c.914-36449A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76248713
chr5:76248930 T
T
 A
A
 5 a0001c0001t0004g0080
a0001c0001t0046g0050
a0001c0007t0004g0079
others(2): Show 
a0001c0001t0004g0080
a0001c0001t0046g0050
a0001c0007t0004g0079
a0004c0010t0027g0110
a0004c0010t0027g0111
 5 HG00741.hp2
HG01106.hp1
HG02258.hp1
others(2): Show 
HG00741.hp2
HG01106.hp1
HG02258.hp1
HG02965.hp1
NA19240.hp2
 intron_variant MODIFIER c.914-36232T>A
c.914-36232T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76248930
chr5:76249157 T
T
 C
C
 1 a0001c0002t0015g0135
a0001c0002t0015g0135
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.914-36005T>C
c.914-36005T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76249157
chr5:76249210 A
A
 G
G
 97 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
others(94): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 97 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(94): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-35952A>G
c.914-35952A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76249210
chr5:76249451 A
A
 T
T
 15 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
others(12): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
a0001c0001t0118g0018
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
 15 HG00642.hp2
HG01109.hp1
HG02451.hp1
others(12): Show 
HG00642.hp2
HG01109.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02886.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.914-35711A>T
c.914-35711A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76249451
chr5:76249522 T
T
 C
C
 1 a0001c0001t0007g0122
a0001c0001t0007g0122
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.914-35640T>C
c.914-35640T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76249522
chr5:76249759 G
G
 C
C
 1 a0001c0001t0070g0227
a0001c0001t0070g0227
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.914-35403G>C
c.914-35403G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76249759
chr5:76250068 G
G
 A
A
 1 a0001c0002t0020g0073
a0001c0002t0020g0073
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.914-35094G>A
c.914-35094G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76250068
chr5:76250072 A
A
 G
G
 12 a0001c0001t0001g0027
a0001c0001t0003g0170
a0001c0001t0011g0065
others(9): Show 
a0001c0001t0001g0027
a0001c0001t0003g0170
a0001c0001t0011g0065
a0001c0001t0121g0097
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0144g0155
a0003c0004t0012g0222
a0003c0005t0034g0173
 12 HG01243.hp1
HG01258.hp1
HG02698.hp2
others(9): Show 
HG01243.hp1
HG01258.hp1
HG02698.hp2
HG04228.hp1
HG04228.hp2
NA18945.hp2
NA18954.hp1
NA18966.hp2
NA19063.hp2
NA19083.hp1
NA19084.hp1
NA19091.hp1
 intron_variant MODIFIER c.914-35090A>G
c.914-35090A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76250072
chr5:76250124 GA
GA
 G
G
 4 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
others(1): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
a0003c0004t0009g0017
 4 HG00733.hp1
HG02630.hp1
HG02717.hp2
others(1): Show 
HG00733.hp1
HG02630.hp1
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.914-35035delA
c.914-35035delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76250124
chr5:76250194 G
G
 A
A
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.914-34968G>A
c.914-34968G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76250194
chr5:76250202 C
C
 CT
CT
 57 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(54): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 57 HG00280.hp1
HG00423.hp1
HG00558.hp1
others(54): Show 
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02717.hp1
HG02738.hp2
HG02895.hp2
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-34953dupT
c.914-34953dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76250202
chr5:76250429 CGTT
CGTT
 C
C
 2 a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0001t0135g0198
a0001c0002t0025g0232
 2 HG02809.hp1
NA19030.hp1
HG02809.hp1
NA19030.hp1
 intron_variant MODIFIER c.914-34725_914-3472
others(7): Show 
c.914-34725_914-34723delTTG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76250429
chr5:76250456 G
G
 A
A
 197 a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
others(194): Show 
a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 197 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(194): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-34706G>A
c.914-34706G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76250456
chr5:76250702 G
G
 A
A
 4 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
others(1): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0036g0014
a0003c0004t0009g0017
 4 HG00733.hp1
HG02630.hp1
HG02717.hp2
others(1): Show 
HG00733.hp1
HG02630.hp1
HG02717.hp2
NA20129.hp2
 intron_variant MODIFIER c.914-34460G>A
c.914-34460G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76250702
chr5:76250949 G
G
 A
A
 14 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
others(11): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
a0001c0001t0118g0018
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
 14 HG00642.hp2
HG01109.hp1
HG02451.hp1
others(11): Show 
HG00642.hp2
HG01109.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02886.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.914-34213G>A
c.914-34213G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76250949
chr5:76251285 G
G
 A
A
 1 a0002c0006t0147g0195
a0002c0006t0147g0195
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.914-33877G>A
c.914-33877G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76251285
chr5:76251295 C
C
 T
T
 45 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0008g0127
others(42): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 45 HG00280.hp1
HG00423.hp1
HG00558.hp1
others(42): Show 
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp1
HG02602.hp2
HG02738.hp2
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-33867C>T
c.914-33867C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76251295
chr5:76251388 T
T
 A
A
 15 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
others(12): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
a0001c0001t0118g0018
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
 15 HG00642.hp2
HG01109.hp1
HG02451.hp1
others(12): Show 
HG00642.hp2
HG01109.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02886.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.914-33774T>A
c.914-33774T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76251388
chr5:76251391 T
T
 A
A
 1 a0002c0003t0085g0215
a0002c0003t0085g0215
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.914-33771T>A
c.914-33771T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76251391
chr5:76251503 A
A
 G
G
 5 a0001c0001t0004g0080
a0001c0001t0046g0050
a0001c0007t0004g0079
others(2): Show 
a0001c0001t0004g0080
a0001c0001t0046g0050
a0001c0007t0004g0079
a0004c0010t0027g0110
a0004c0010t0027g0111
 5 HG00741.hp2
HG01106.hp1
HG02258.hp1
others(2): Show 
HG00741.hp2
HG01106.hp1
HG02258.hp1
HG02965.hp1
NA19240.hp2
 intron_variant MODIFIER c.914-33659A>G
c.914-33659A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76251503
chr5:76251541 A
A
 T
T
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.914-33621A>T
c.914-33621A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76251541
chr5:76251568 T
T
 A
A
 1 a0002c0008t0007g0225
a0002c0008t0007g0225
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.914-33594T>A
c.914-33594T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76251568
chr5:76251867 T
T
 C
C
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.914-33295T>C
c.914-33295T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76251867
chr5:76251979 A
A
 G
G
 18 a0001c0001t0002g0024
a0001c0001t0013g0085
a0001c0001t0050g0041
others(15): Show 
a0001c0001t0002g0024
a0001c0001t0013g0085
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0074g0208
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0080g0084
a0002c0008t0002g0216
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
 18 HG01891.hp1
HG02055.hp1
HG02630.hp2
others(15): Show 
HG01891.hp1
HG02055.hp1
HG02630.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG03130.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.914-33183A>G
c.914-33183A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76251979
chr5:76252084 C
C
 A
A
 1 a0002c0003t0026g0230
a0002c0003t0026g0230
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.914-33078C>A
c.914-33078C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252084
chr5:76252096 C
C
 T
T
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.914-33066C>T
c.914-33066C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252096
chr5:76252270 C
C
 A
A
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-32892C>A
c.914-32892C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252270
chr5:76252284 T
T
 C
C
 1 a0001c0002t0108g0120
a0001c0002t0108g0120
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.914-32878T>C
c.914-32878T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252284
chr5:76252351 C
C
 T
T
 96 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
others(93): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 96 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(93): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-32811C>T
c.914-32811C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252351
chr5:76252360 A
A
 G
G
 14 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
others(11): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0070g0227
a0001c0001t0118g0018
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
 14 HG00642.hp2
HG01109.hp1
HG02451.hp1
others(11): Show 
HG00642.hp2
HG01109.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02886.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.914-32802A>G
c.914-32802A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252360
chr5:76252369 G
G
 A
A
 1 a0001c0002t0089g0081
a0001c0002t0089g0081
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.914-32793G>A
c.914-32793G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252369
chr5:76252402 G
G
 A
A
 7 a0001c0002t0006g0196
a0001c0002t0036g0176
a0001c0002t0037g0194
others(4): Show 
a0001c0002t0006g0196
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0111g0133
a0001c0002t0150g0191
a0003c0005t0156g0193
 7 HG00280.hp1
HG00733.hp2
HG01109.hp2
others(4): Show 
HG00280.hp1
HG00733.hp2
HG01109.hp2
HG01168.hp1
HG01256.hp2
HG01515.hp2
HG02738.hp2
 intron_variant MODIFIER c.914-32760G>A
c.914-32760G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252402
chr5:76252421 C
C
 T
T
 5 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
others(2): Show 
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0002t0101g0144
a0001c0002t0151g0151
 5 HG00140.hp1
HG00280.hp2
HG00738.hp2
others(2): Show 
HG00140.hp1
HG00280.hp2
HG00738.hp2
HG01433.hp2
HG02735.hp1
 intron_variant MODIFIER c.914-32741C>T
c.914-32741C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252421
chr5:76252422 G
G
 A
A
 1 a0001c0002t0037g0194
a0001c0002t0037g0194
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.914-32740G>A
c.914-32740G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252422
chr5:76252450 T
T
 G
G
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-32712T>G
c.914-32712T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252450
chr5:76252476 C
C
 G
G
 1 a0001c0001t0047g0046
a0001c0001t0047g0046
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.914-32686C>G
c.914-32686C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252476
chr5:76252503 C
C
 T
T
 1 a0001c0001t0001g0054
a0001c0001t0001g0054
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.914-32659C>T
c.914-32659C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252503
chr5:76252618 A
A
 G
G
 230 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(227): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 230 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(227): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-32544A>G
c.914-32544A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252618
chr5:76252701 G
G
 C
C
 1 a0002c0003t0059g0043
a0002c0003t0059g0043
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.914-32461G>C
c.914-32461G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252701
chr5:76252891 G
G
 A
A
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-32271G>A
c.914-32271G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252891
chr5:76252924 A
A
 G
G
 1 a0003c0005t0155g0149
a0003c0005t0155g0149
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.914-32238A>G
c.914-32238A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252924
chr5:76252970 T
T
 G
G
 1 a0001c0001t0157g0029
a0001c0001t0157g0029
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.914-32192T>G
c.914-32192T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252970
chr5:76252978 A
A
 G
G
 1 a0003c0005t0030g0137
a0003c0005t0030g0137
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-32184A>G
c.914-32184A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76252978
chr5:76253047 G
G
 C
C
 33 a0001c0001t0002g0024
a0001c0001t0004g0219
a0001c0001t0009g0190
others(30): Show 
a0001c0001t0002g0024
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0007t0007g0078
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
 33 HG00642.hp2
HG01109.hp1
HG01891.hp1
others(30): Show 
HG00642.hp2
HG01109.hp1
HG01891.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.914-32115G>C
c.914-32115G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76253047
chr5:76253143 TA
TA
 T
T
 4 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(1): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
 4 HG02886.hp1
HG02896.hp2
HG03209.hp2
others(1): Show 
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.914-32015delA
c.914-32015delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76253143
chr5:76253377 G
G
 A
A
 189 a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
others(186): Show 
a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 189 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(186): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-31785G>A
c.914-31785G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76253377
chr5:76253402 T
T
 C
C
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.914-31760T>C
c.914-31760T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76253402
chr5:76253516 T
T
 C
C
 7 a0001c0001t0002g0024
a0001c0001t0074g0208
a0001c0001t0135g0198
others(4): Show 
a0001c0001t0002g0024
a0001c0001t0074g0208
a0001c0001t0135g0198
a0001c0002t0025g0232
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
 7 HG01891.hp1
HG02809.hp1
HG03130.hp1
others(4): Show 
HG01891.hp1
HG02809.hp1
HG03130.hp1
HG03540.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp1
 intron_variant MODIFIER c.914-31646T>C
c.914-31646T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76253516
chr5:76253575 A
A
 G
G
 4 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
others(1): Show 
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0002c0003t0080g0084
 4 HG02886.hp1
HG02896.hp2
HG03209.hp2
others(1): Show 
HG02886.hp1
HG02896.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.914-31587A>G
c.914-31587A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76253575
chr5:76253586 G
G
 T
T
 62 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(59): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 62 HG00280.hp1
HG00423.hp1
HG00558.hp1
others(59): Show 
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02717.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-31576G>T
c.914-31576G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76253586
chr5:76253593 C
C
 T
T
 194 a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
others(191): Show 
a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 194 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(191): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-31569C>T
c.914-31569C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76253593
chr5:76253650 A
A
 G
G
 97 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
others(94): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0029g0141
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 97 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(94): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-31512A>G
c.914-31512A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76253650
chr5:76253682 C
C
 T
T
 194 a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
others(191): Show 
a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 194 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(191): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-31480C>T
c.914-31480C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76253682
chr5:76253708 G
G
 GA
GA
 89 a0001c0001t0001g0027
a0001c0001t0003g0096
a0001c0001t0003g0098
others(86): Show 
a0001c0001t0001g0027
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0032g0004
a0001c0001t0046g0050
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0075g0115
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0130g0010
a0001c0001t0137g0159
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0110g0124
a0001c0002t0142g0001
a0001c0002t0148g0158
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0045g0048
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0007c0014t0005g0180
 89 HG00423.hp2
HG00642.hp2
HG00738.hp1
others(86): Show 
HG00423.hp2
HG00642.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01106.hp1
HG01123.hp2
HG01243.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01496.hp2
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19007.hp1
NA19007.hp2
NA19043.hp2
NA19056.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-31436dupA
c.914-31436dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76253708
chr5:76253708 G
G
 GAA
GAA
 70 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
others(67): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0136g0095
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0029g0141
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0071g0228
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0026g0147
a0003c0004t0057g0071
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 70 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(67): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-31437_914-3143
others(6): Show 
c.914-31437_914-31436dupAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76253708
chr5:76253792 C
C
 T
T
 62 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(59): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 62 HG00280.hp1
HG00423.hp1
HG00558.hp1
others(59): Show 
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02717.hp1
HG02738.hp2
HG02895.hp2
HG02965.hp1
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-31370C>T
c.914-31370C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76253792
chr5:76253920 C
C
 A
A
 95 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
others(92): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 95 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(92): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-31242C>A
c.914-31242C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76253920
chr5:76253938 T
T
 C
C
 1 a0001c0002t0009g0186
a0001c0002t0009g0186
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.914-31224T>C
c.914-31224T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76253938
chr5:76254144 T
T
 TTA
TTA
 3 a0001c0002t0064g0038
a0001c0002t0144g0155
a0003c0005t0030g0118
a0001c0002t0064g0038
a0001c0002t0144g0155
a0003c0005t0030g0118
 3 HG02015.hp1
HG02698.hp2
NA18966.hp2
HG02015.hp1
HG02698.hp2
NA18966.hp2
 intron_variant MODIFIER c.914-31002_914-3100
others(6): Show 
c.914-31002_914-31001dupAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76254144
chr5:76254144 TTA
TTA
 T
T
 118 a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
others(115): Show 
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 118 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(115): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01943.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-31002_914-3100
others(6): Show 
c.914-31002_914-31001delAT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76254144
chr5:76254158 A
A
 G
G
 4 a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
others(1): Show 
a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
a0003c0004t0066g0086
 4 HG01891.hp2
HG02572.hp2
HG02895.hp2
others(1): Show 
HG01891.hp2
HG02572.hp2
HG02895.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-31004A>G
c.914-31004A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254158
chr5:76254158 ATATG
ATATG
 A
A
 4 a0001c0001t0004g0219
a0002c0008t0002g0218
a0002c0008t0002g0221
others(1): Show 
a0001c0001t0004g0219
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 4 HG00642.hp2
HG02451.hp1
HG02559.hp2
others(1): Show 
HG00642.hp2
HG02451.hp1
HG02559.hp2
HG02922.hp2
 intron_variant MODIFIER c.914-31002_914-3099
others(8): Show 
c.914-31002_914-30999delATGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76254158
chr5:76254160 A
A
 G
G
 29 a0001c0001t0002g0024
a0001c0001t0004g0229
a0001c0001t0009g0008
others(26): Show 
a0001c0001t0002g0024
a0001c0001t0004g0229
a0001c0001t0009g0008
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0084g0090
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0002t0015g0135
a0001c0002t0025g0232
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0002c0003t0044g0074
a0002c0003t0086g0088
a0002c0008t0002g0216
a0003c0004t0039g0062
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0004c0010t0027g0110
a0004c0010t0027g0111
 29 HG00741.hp2
HG01106.hp1
HG01891.hp1
others(26): Show 
HG00741.hp2
HG01106.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02257.hp2
HG02258.hp1
HG02486.hp1
HG02572.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03471.hp1
HG03540.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.914-31002A>G
c.914-31002A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254160
chr5:76254180 ATG
ATG
 A
A
 15 a0001c0001t0009g0190
a0001c0001t0070g0227
a0001c0001t0073g0089
others(12): Show 
a0001c0001t0009g0190
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0118g0018
a0001c0002t0100g0206
a0001c0002t0109g0209
a0001c0007t0007g0078
a0002c0003t0044g0074
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0003c0004t0026g0147
a0003c0004t0066g0086
 15 HG01109.hp1
HG01891.hp2
HG02572.hp1
others(12): Show 
HG01109.hp1
HG01891.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp2
HG02976.hp1
HG03209.hp1
HG03225.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.914-30972_914-3097
others(6): Show 
c.914-30972_914-30971delGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76254180
chr5:76254182 G
G
 A
A
 112 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0024
others(109): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0039g0062
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 112 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(109): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01943.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-30980G>A
c.914-30980G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254182
chr5:76254222 G
G
 A
A
 1 a0002c0003t0085g0215
a0002c0003t0085g0215
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.914-30940G>A
c.914-30940G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254222
chr5:76254230 A
A
 G
G
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.914-30932A>G
c.914-30932A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254230
chr5:76254230 ATG
ATG
 A
A
 88 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
others(85): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 88 HG00280.hp1
HG00423.hp1
HG00558.hp1
others(85): Show 
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19011.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-30922_914-3092
others(6): Show 
c.914-30922_914-30921delGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76254230
chr5:76254240 G
G
 A
A
 7 a0001c0001t0022g0214
a0001c0002t0020g0073
a0001c0002t0152g0199
others(4): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0003c0004t0019g0145
a0003c0004t0058g0051
 7 HG00140.hp2
HG01256.hp1
HG01258.hp2
others(4): Show 
HG00140.hp2
HG01256.hp1
HG01258.hp2
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.914-30922G>A
c.914-30922G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254240
chr5:76254240 GTA
GTA
 G
G
 3 a0001c0002t0089g0081
a0002c0003t0049g0025
a0003c0005t0034g0173
a0001c0002t0089g0081
a0002c0003t0049g0025
a0003c0005t0034g0173
 3 HG02647.hp2
NA19030.hp2
NA19091.hp1
HG02647.hp2
NA19030.hp2
NA19091.hp1
 intron_variant MODIFIER c.914-30905_914-3090
others(6): Show 
c.914-30905_914-30904delTA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76254240
chr5:76254244 A
A
 G
G
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.914-30918A>G
c.914-30918A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254244
chr5:76254253 T
T
 G
G
 12 a0001c0001t0002g0094
a0001c0001t0004g0080
a0001c0001t0007g0093
others(9): Show 
a0001c0001t0002g0094
a0001c0001t0004g0080
a0001c0001t0007g0093
a0001c0001t0011g0040
a0001c0001t0025g0231
a0001c0001t0132g0009
a0001c0007t0004g0079
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0044g0074
a0004c0010t0027g0110
a0004c0010t0027g0111
 12 HG00741.hp2
HG01106.hp1
HG01884.hp2
others(9): Show 
HG00741.hp2
HG01106.hp1
HG01884.hp2
HG02723.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03195.hp2
NA18522.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-30909T>G
c.914-30909T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254253
chr5:76254253 T
T
 TAG
TAG
 3 a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0013g0085
a0001c0001t0065g0233
a0001c0001t0068g0092
 3 HG02886.hp1
HG02896.hp2
HG03486.hp1
HG02886.hp1
HG02896.hp2
HG03486.hp1
 intron_variant MODIFIER c.914-30908_914-3090
others(6): Show 
c.914-30908_914-30907insGA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76254253
chr5:76254255 T
T
 G
G
 71 a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0094
others(68): Show 
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0008g0127
a0001c0001t0009g0008
a0001c0001t0011g0040
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0025g0231
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0053g0045
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0074g0208
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0157g0029
a0001c0002t0006g0177
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0060g0052
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0019g0145
a0003c0004t0045g0048
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0005t0155g0149
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 71 HG00423.hp1
HG00735.hp2
HG00741.hp2
others(68): Show 
HG00423.hp1
HG00735.hp2
HG00741.hp2
HG01106.hp1
HG01123.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01515.hp1
HG01884.hp2
HG01981.hp1
HG02015.hp2
HG02056.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03834.hp2
HG04228.hp1
NA18522.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp2
NA18960.hp2
NA18975.hp2
NA18992.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.914-30907T>G
c.914-30907T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254255
chr5:76254257 T
T
 G
G
 151 a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
others(148): Show 
a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0045g0048
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 151 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(148): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-30905T>G
c.914-30905T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254257
chr5:76254257 T
T
 TAGAG
TAGAG
 2 a0001c0001t0070g0227
a0002c0003t0119g0187
a0001c0001t0070g0227
a0002c0003t0119g0187
 2 HG01109.hp1
HG02976.hp1
HG01109.hp1
HG02976.hp1
 intron_variant MODIFIER c.914-30891_914-3088
others(8): Show 
c.914-30891_914-30888dupGAGA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76254257
chr5:76254257 T
T
 TAGAGAG
TAGAGAG
 6 a0001c0001t0009g0190
a0002c0003t0085g0215
a0002c0006t0095g0091
others(3): Show 
a0001c0001t0009g0190
a0002c0003t0085g0215
a0002c0006t0095g0091
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
 6 HG02451.hp1
HG02559.hp2
HG02572.hp1
others(3): Show 
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02809.hp2
HG03209.hp1
 intron_variant MODIFIER c.914-30893_914-3088
others(10): Show 
c.914-30893_914-30888dupGAGAGA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76254257
chr5:76254257 T
T
 TATAG
TATAG
 2 a0001c0001t0118g0018
a0002c0003t0071g0228
a0001c0001t0118g0018
a0002c0003t0071g0228
 2 HG02886.hp2
HG02970.hp2
HG02886.hp2
HG02970.hp2
 intron_variant MODIFIER c.914-30904_914-3090
others(8): Show 
c.914-30904_914-30903insTAGA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76254257
chr5:76254257 T
T
 TATAGAG
TATAGAG
 4 a0001c0001t0004g0219
a0001c0002t0100g0206
a0001c0007t0007g0078
others(1): Show 
a0001c0001t0004g0219
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0008t0002g0218
 4 HG00642.hp2
HG02723.hp1
HG02922.hp2
others(1): Show 
HG00642.hp2
HG02723.hp1
HG02922.hp2
HG03225.hp2
 intron_variant MODIFIER c.914-30904_914-3090
others(10): Show 
c.914-30904_914-30903insTAGAGA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76254257
chr5:76254259 G
G
 T
T
 15 a0001c0001t0002g0224
a0001c0001t0010g0032
a0001c0001t0010g0033
others(12): Show 
a0001c0001t0002g0224
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0032g0004
a0001c0001t0042g0072
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0101g0144
a0001c0002t0149g0019
a0002c0003t0033g0169
a0003c0004t0057g0071
a0003c0004t0139g0016
 15 HG00280.hp2
HG00423.hp2
HG00738.hp2
others(12): Show 
HG00280.hp2
HG00423.hp2
HG00738.hp2
HG01433.hp2
HG01884.hp1
HG02523.hp1
HG02559.hp1
HG02735.hp1
HG03195.hp1
HG03486.hp2
HG03540.hp2
HG04204.hp1
NA18522.hp2
NA18968.hp2
NA20300.hp1
 intron_variant MODIFIER c.914-30903G>T
c.914-30903G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254259
chr5:76254390 G
G
 A
A
 46 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0008g0127
others(43): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 46 HG00280.hp1
HG00423.hp1
HG00558.hp1
others(43): Show 
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01261.hp1
HG01433.hp1
HG01515.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02280.hp1
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02738.hp2
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA19088.hp1
NA20129.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-30772G>A
c.914-30772G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254390
chr5:76254412 C
C
 T
T
 18 a0001c0001t0002g0024
a0001c0001t0013g0085
a0001c0001t0050g0041
others(15): Show 
a0001c0001t0002g0024
a0001c0001t0013g0085
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0074g0208
a0001c0001t0125g0007
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0080g0084
a0002c0008t0002g0216
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
 18 HG01891.hp1
HG02055.hp1
HG02630.hp2
others(15): Show 
HG01891.hp1
HG02055.hp1
HG02630.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG03130.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.914-30750C>T
c.914-30750C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254412
chr5:76254445 C
C
 G
G
 1 a0001c0002t0089g0081
a0001c0002t0089g0081
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.914-30717C>G
c.914-30717C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254445
chr5:76254500 T
T
 G
G
 57 a0001c0001t0001g0027
a0001c0001t0002g0023
a0001c0001t0003g0096
others(54): Show 
a0001c0001t0001g0027
a0001c0001t0002g0023
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0041g0036
a0001c0001t0048g0047
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0137g0159
a0001c0002t0006g0156
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0104g0020
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0015t0079g0087
a0002c0003t0026g0230
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0045g0048
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 57 HG00735.hp2
HG00738.hp1
HG00741.hp1
others(54): Show 
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02109.hp1
HG02257.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02615.hp2
HG02698.hp2
HG02723.hp2
HG03041.hp2
HG03225.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG04184.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19007.hp2
NA19056.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.914-30662T>G
c.914-30662T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254500
chr5:76254733 A
A
 T
T
 4 a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
others(1): Show 
a0001c0001t0022g0214
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 4 HG02083.hp1
NA19007.hp1
NA19063.hp1
others(1): Show 
HG02083.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.914-30429A>T
c.914-30429A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76254733
chr5:76255141 C
C
 T
T
 12 a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0002t0100g0206
others(9): Show 
a0001c0001t0004g0219
a0001c0001t0009g0190
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0026g0147
 12 HG00642.hp2
HG02451.hp1
HG02559.hp2
others(9): Show 
HG00642.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.914-30021C>T
c.914-30021C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76255141
chr5:76255344 G
G
 A
A
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-29818G>A
c.914-29818G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76255344
chr5:76255367 G
G
 A
A
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.914-29795G>A
c.914-29795G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76255367
chr5:76255384 C
C
 T
T
 97 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
others(94): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 97 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(94): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-29778C>T
c.914-29778C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76255384
chr5:76255490 A
A
 G
G
 99 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
others(96): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0029g0141
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 99 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(96): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01943.hp1
HG02015.hp2
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-29672A>G
c.914-29672A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76255490
chr5:76255705 C
C
 T
T
 1 a0001c0001t0135g0198
a0001c0001t0135g0198
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.914-29457C>T
c.914-29457C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76255705
chr5:76255777 C
C
 T
T
 2 a0004c0010t0027g0110
a0004c0010t0027g0111
a0004c0010t0027g0110
a0004c0010t0027g0111
 2 HG00741.hp2
HG01106.hp1
HG00741.hp2
HG01106.hp1
 intron_variant MODIFIER c.914-29385C>T
c.914-29385C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76255777
chr5:76255895 A
A
 G
G
 1 a0001c0001t0023g0102
a0001c0001t0023g0102
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.914-29267A>G
c.914-29267A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76255895
chr5:76255914 C
C
 G
G
 40 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
others(37): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0007g0122
a0001c0001t0013g0085
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0122g0011
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0020g0073
a0001c0002t0102g0234
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0080g0084
a0002c0003t0087g0021
a0002c0003t0129g0188
a0002c0006t0094g0142
a0002c0006t0147g0195
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0139g0016
a0004c0010t0027g0110
a0004c0010t0027g0111
 40 HG00140.hp2
HG00741.hp2
HG01106.hp1
others(37): Show 
HG00140.hp2
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02647.hp2
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG04204.hp1
NA18522.hp2
NA18955.hp1
NA19007.hp1
NA19011.hp1
NA19063.hp1
NA19081.hp2
NA19240.hp2
NA20905.hp1
 intron_variant MODIFIER c.914-29248C>G
c.914-29248C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76255914
chr5:76256099 G
G
 A
A
 1 a0001c0002t0014g0134
a0001c0002t0014g0134
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.914-29063G>A
c.914-29063G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76256099
chr5:76256107 G
G
 A
A
 3 a0001c0001t0133g0157
a0001c0002t0102g0234
a0002c0006t0147g0195
a0001c0001t0133g0157
a0001c0002t0102g0234
a0002c0006t0147g0195
 3 HG01496.hp1
HG04204.hp1
NA20905.hp1
HG01496.hp1
HG04204.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-29055G>A
c.914-29055G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76256107
chr5:76256222 C
C
 T
T
 77 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
others(74): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0098g0113
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 77 HG00280.hp1
HG00423.hp1
HG00558.hp1
others(74): Show 
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02717.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03486.hp1
HG04184.hp1
HG04199.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-28940C>T
c.914-28940C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76256222
chr5:76256280 C
C
 T
T
 57 a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
others(54): Show 
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0004g0229
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0032g0160
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0084g0090
a0001c0001t0123g0002
a0001c0001t0157g0029
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0098g0113
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0146g0175
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0067g0109
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0156g0193
 57 HG00280.hp1
HG00423.hp1
HG00558.hp1
others(54): Show 
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01255.hp2
HG01256.hp2
HG01433.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02717.hp1
HG02895.hp2
HG03098.hp1
HG03139.hp1
HG04184.hp1
HG04199.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19043.hp2
NA19056.hp2
NA19060.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19084.hp2
NA20129.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-28882C>T
c.914-28882C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76256280
chr5:76256505 A
A
 G
G
 2 a0003c0004t0057g0071
a0003c0004t0139g0016
a0003c0004t0057g0071
a0003c0004t0139g0016
 2 HG01884.hp1
NA18522.hp2
HG01884.hp1
NA18522.hp2
 intron_variant MODIFIER c.914-28657A>G
c.914-28657A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76256505
chr5:76256530 C
C
 T
T
 3 a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
a0001c0002t0020g0073
a0003c0004t0019g0145
a0003c0004t0058g0051
 3 NA19007.hp1
NA19063.hp1
NA19081.hp2
NA19007.hp1
NA19063.hp1
NA19081.hp2
 intron_variant MODIFIER c.914-28632C>T
c.914-28632C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76256530
chr5:76256676 G
G
 A
A
 193 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
others(190): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 193 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(190): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA18998.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-28486G>A
c.914-28486G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76256676
chr5:76256733 T
T
 C
C
 1 a0001c0002t0089g0081
a0001c0002t0089g0081
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.914-28429T>C
c.914-28429T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76256733
chr5:76256760 C
C
 T
T
 16 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(13): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0088g0123
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0002t0102g0234
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0094g0142
a0002c0006t0147g0195
 16 HG01496.hp1
HG01884.hp2
HG02015.hp2
others(13): Show 
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02735.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG04204.hp1
NA18955.hp1
NA19011.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-28402C>T
c.914-28402C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76256760
chr5:76256920 G
G
 A
A
 4 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0089g0081
others(1): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0002t0089g0081
a0003c0004t0009g0017
 4 HG00733.hp1
HG02630.hp1
NA19030.hp2
others(1): Show 
HG00733.hp1
HG02630.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.914-28242G>A
c.914-28242G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76256920
chr5:76256931 T
T
 C
C
 1 a0001c0001t0001g0057
a0001c0001t0001g0057
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.914-28231T>C
c.914-28231T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76256931
chr5:76257025 A
A
 G
G
 21 a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0046g0050
others(18): Show 
a0001c0001t0004g0080
a0001c0001t0013g0085
a0001c0001t0046g0050
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0082g0220
a0001c0001t0122g0011
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0020g0073
a0001c0007t0004g0079
a0002c0003t0013g0226
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0003c0004t0019g0145
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0139g0016
a0004c0010t0027g0110
a0004c0010t0027g0111
 21 HG00741.hp2
HG01106.hp1
HG01243.hp2
others(18): Show 
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG01884.hp1
HG02055.hp2
HG02258.hp1
HG02647.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
NA18522.hp2
NA19007.hp1
NA19063.hp1
NA19081.hp2
NA19240.hp2
 intron_variant MODIFIER c.914-28137A>G
c.914-28137A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76257025
chr5:76257143 C
C
 T
T
 2 a0001c0001t0117g0012
a0003c0004t0045g0048
a0001c0001t0117g0012
a0003c0004t0045g0048
 2 HG02258.hp2
NA19240.hp1
HG02258.hp2
NA19240.hp1
 intron_variant MODIFIER c.914-28019C>T
c.914-28019C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76257143
chr5:76257180 A
A
 T
T
 3 a0001c0001t0008g0217
a0001c0001t0040g0070
a0003c0004t0009g0017
a0001c0001t0008g0217
a0001c0001t0040g0070
a0003c0004t0009g0017
 3 HG00733.hp1
HG02630.hp1
NA20129.hp2
HG00733.hp1
HG02630.hp1
NA20129.hp2
 intron_variant MODIFIER c.914-27982A>T
c.914-27982A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76257180
chr5:76257263 A
A
 ATG
ATG
 3 a0002c0003t0013g0226
a0003c0004t0057g0071
a0003c0004t0139g0016
a0002c0003t0013g0226
a0003c0004t0057g0071
a0003c0004t0139g0016
 3 HG01884.hp1
HG02896.hp1
NA18522.hp2
HG01884.hp1
HG02896.hp1
NA18522.hp2
 intron_variant MODIFIER c.914-27873_914-2787
others(6): Show 
c.914-27873_914-27872dupGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76257263
chr5:76257263 ATG
ATG
 A
A
 35 a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0057
others(32): Show 
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0165
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0005g0099
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0023g0131
a0001c0001t0032g0004
a0001c0001t0033g0003
a0001c0001t0042g0072
a0001c0001t0051g0035
a0001c0001t0077g0212
a0001c0001t0083g0204
a0001c0001t0136g0095
a0001c0002t0014g0136
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0020g0042
a0001c0002t0101g0144
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0009t0031g0184
a0001c0009t0134g0182
a0002c0003t0033g0169
a0002c0003t0072g0143
a0003c0004t0038g0066
 35 HG00140.hp1
HG00280.hp2
HG00423.hp2
others(32): Show 
HG00140.hp1
HG00280.hp2
HG00423.hp2
HG00558.hp2
HG00738.hp2
HG01168.hp2
HG01361.hp2
HG01433.hp2
HG01928.hp2
HG01943.hp2
HG02080.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02698.hp1
HG02735.hp1
HG03195.hp1
HG03486.hp2
HG03540.hp2
HG04199.hp2
HG04204.hp2
NA18955.hp2
NA18968.hp1
NA18968.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA19001.hp1
NA19005.hp1
NA19011.hp2
NA19060.hp2
NA19068.hp1
NA19072.hp2
NA19079.hp2
 intron_variant MODIFIER c.914-27873_914-2787
others(6): Show 
c.914-27873_914-27872delGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76257263
chr5:76257263 ATGTGTG
ATGTGTG
 A
A
 97 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0002g0023
others(94): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0121g0097
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0014g0134
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0104g0020
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0026g0230
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 97 HG00140.hp2
HG00280.hp1
HG00642.hp2
others(94): Show 
HG00140.hp2
HG00280.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19072.hp1
NA19081.hp1
NA19083.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.914-27877_914-2787
others(10): Show 
c.914-27877_914-27872delGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76257263
chr5:76257263 ATGTGTGT
others(5): Show 
ATGTGTGTGTGTG
 A
A
 63 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
others(60): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0052g0055
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0015g0138
a0001c0002t0089g0081
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0150g0191
a0001c0007t0007g0078
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0221
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0045g0048
a0003c0004t0066g0086
a0003c0004t0091g0107
a0004c0010t0027g0110
a0004c0010t0027g0111
 63 HG00423.hp1
HG00733.hp1
HG00735.hp1
others(60): Show 
HG00423.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01243.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG02015.hp2
HG02055.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG04184.hp1
HG04204.hp1
NA18990.hp1
NA19011.hp1
NA19030.hp2
NA19079.hp1
NA19084.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.914-27883_914-2787
others(16): Show 
c.914-27883_914-27872delGTGTGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76257263
chr5:76257265 G
G
 GTGTGTGT
others(251): Show 
GTGTGTGTGTGTGTAGTGTGTGTGTGGTATCTGTATGGTGTGTAGTGTGT
GTGTGGTATCTGTATGGTGTGTGTACTACATGGTTGTATGTGGTTGGGGT
GTGGGGGGTGCGTGTAGTATGTGTGGGGTAGCGTGGTATGGTTTGTTCCT
ACTTATTAATCTTATTAATTAACATATATCTTATATATTAATCTTTATAC
TTATTGTTGTCACTGGGGCTAAATAGTCTCTATAGCTCGTGGTGGGGGGC
TGTAGTGTA
 15 a0001c0001t0018g0044
a0001c0001t0054g0063
a0001c0001t0055g0064
others(12): Show 
a0001c0001t0018g0044
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0123g0002
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0098g0113
a0001c0002t0105g0117
a0001c0002t0114g0125
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
 15 HG00642.hp1
HG00733.hp2
HG01074.hp1
others(12): Show 
HG00642.hp1
HG00733.hp2
HG01074.hp1
HG01109.hp2
HG01515.hp2
HG02109.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18975.hp1
NA18998.hp1
NA19007.hp1
NA19063.hp1
NA19081.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-27884_914-2788
others(262): Show 
c.914-27884_914-27883insAGTGTGTGTGTGGTATCTGTATGGTG
TGTAGTGTGTGTGTGGTATCTGTATGGTGTGTGTACTACATGGTTGTATG
TGGTTGGGGTGTGGGGGGTGCGTGTAGTATGTGTGGGGTAGCGTGGTATG
GTTTGTTCCTACTTATTAATCTTATTAATTAACATATATCTTATATATTA
ATCTTTATACTTATTGTTGTCACTGGGGCTAAATAGTCTCTATAGCTCGT
GGTGGGGGGCTGTAGTGTATGTGTGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76257265
chr5:76257269 G
G
 GTGTGTGT
others(247): Show 
GTGTGTGTGTAGTGTGTGTGTGGTATCTGTATGGTGTGTAGTGTGTGTGT
GGTATCTGTATGGTGTGTGTACTACATGGTTGTATGTGGTTGGGGTGTGG
GGGGTGCGTGTAGTATGTGTGGGGTAGCGTGGTATGGTTTGTTCCTACTT
ATTAATCTTATTAATTAACATATATCTTATATATTAATCTTTATACTTAT
TGTTGTCACTGGGGCTAAATAGTCTCTATAGCTCATGGTGGGGGGCTGTA
GTGTA
 1 a0002c0003t0021g0103
a0002c0003t0021g0103
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.914-27884_914-2788
others(258): Show 
c.914-27884_914-27883insAGTGTGTGTGTGGTATCTGTATGGTG
TGTAGTGTGTGTGTGGTATCTGTATGGTGTGTGTACTACATGGTTGTATG
TGGTTGGGGTGTGGGGGGTGCGTGTAGTATGTGTGGGGTAGCGTGGTATG
GTTTGTTCCTACTTATTAATCTTATTAATTAACATATATCTTATATATTA
ATCTTTATACTTATTGTTGTCACTGGGGCTAAATAGTCTCTATAGCTCAT
GGTGGGGGGCTGTAGTGTATGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76257269
chr5:76257269 G
G
 GTGTGTGT
others(247): Show 
GTGTGTGTGTAGTGTGTGTGTGGTATCTGTATGGTGTGTAGTGTGTGTGT
GGTATCTGTATGGTGTGTGTACTACATGGTTGTATGTGGTTGGGGTGTGG
GGGGTGCGTGTAGTATGTGTGGGGTAGCGTGGTATGGTTTGTTCCTACTT
ATTAATCTTATTAATTAACATATATCTTATATATTAATCTTTATACTTAT
TGTTGTCACTGGGGCTAAATAGTCTCTATAGCTCGTGGTGGGGGGCTGTA
GTGTA
 6 a0001c0001t0022g0214
a0002c0003t0124g0183
a0002c0006t0034g0168
others(3): Show 
a0001c0001t0022g0214
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0005t0116g0126
 6 HG00558.hp1
HG01433.hp1
HG02080.hp1
others(3): Show 
HG00558.hp1
HG01433.hp1
HG02080.hp1
HG02083.hp1
HG02145.hp2
NA18960.hp1
 intron_variant MODIFIER c.914-27884_914-2788
others(258): Show 
c.914-27884_914-27883insAGTGTGTGTGTGGTATCTGTATGGTG
TGTAGTGTGTGTGTGGTATCTGTATGGTGTGTGTACTACATGGTTGTATG
TGGTTGGGGTGTGGGGGGTGCGTGTAGTATGTGTGGGGTAGCGTGGTATG
GTTTGTTCCTACTTATTAATCTTATTAATTAACATATATCTTATATATTA
ATCTTTATACTTATTGTTGTCACTGGGGCTAAATAGTCTCTATAGCTCGT
GGTGGGGGGCTGTAGTGTATGTGTGTGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76257269
chr5:76257338 G
G
 A
A
 1 a0001c0001t0092g0211
a0001c0001t0092g0211
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.914-27824G>A
c.914-27824G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76257338
chr5:76257805 G
G
 T
T
 1 a0001c0002t0096g0112
a0001c0002t0096g0112
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.914-27357G>T
c.914-27357G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76257805
chr5:76257917 G
G
 T
T
 27 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(24): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
 27 HG00423.hp1
HG00642.hp2
HG01496.hp1
others(24): Show 
HG00423.hp1
HG00642.hp2
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02630.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG04184.hp1
HG04204.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-27245G>T
c.914-27245G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76257917
chr5:76257918 T
T
 G
G
 27 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(24): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
 27 HG00423.hp1
HG00642.hp2
HG01496.hp1
others(24): Show 
HG00423.hp1
HG00642.hp2
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02630.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG04184.hp1
HG04204.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-27244T>G
c.914-27244T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76257918
chr5:76257921 GTGTA
GTGTA
 G
G
 27 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(24): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
 27 HG00423.hp1
HG00642.hp2
HG01496.hp1
others(24): Show 
HG00423.hp1
HG00642.hp2
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02630.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG04184.hp1
HG04204.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-27237_914-2723
others(8): Show 
c.914-27237_914-27234delATGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76257921
chr5:76257965 A
A
 G
G
 201 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 201 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(198): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-27197A>G
c.914-27197A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76257965
chr5:76257983 A
A
 T
T
 171 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(168): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 171 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(168): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-27179A>T
c.914-27179A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76257983
chr5:76258041 T
T
 A
A
 2 a0001c0001t0075g0115
a0001c0002t0097g0114
a0001c0001t0075g0115
a0001c0002t0097g0114
 2 NA19068.hp2
NA19081.hp1
NA19068.hp2
NA19081.hp1
 intron_variant MODIFIER c.914-27121T>A
c.914-27121T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76258041
chr5:76258105 G
G
 T
T
 1 a0002c0003t0080g0084
a0002c0003t0080g0084
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.914-27057G>T
c.914-27057G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76258105
chr5:76258130 G
G
 A
A
 27 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(24): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
 27 HG00423.hp1
HG00642.hp2
HG01496.hp1
others(24): Show 
HG00423.hp1
HG00642.hp2
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02630.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG04184.hp1
HG04204.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-27032G>A
c.914-27032G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76258130
chr5:76258131 G
G
 GGT
GGT
 42 a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
others(39): Show 
a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0003g0170
a0001c0001t0012g0223
a0001c0001t0022g0214
a0001c0001t0032g0160
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0014g0136
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0098g0113
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0114g0125
a0001c0002t0151g0151
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 42 HG00140.hp1
HG00558.hp1
HG00642.hp1
others(39): Show 
HG00140.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01258.hp1
HG01433.hp1
HG01515.hp2
HG01943.hp1
HG02015.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG04228.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18981.hp2
NA19001.hp1
NA19005.hp2
NA19007.hp1
NA19030.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-27016_914-2701
others(6): Show 
c.914-27016_914-27015dupGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76258131
chr5:76258131 GGT
GGT
 G
G
 27 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(24): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
 27 HG00423.hp1
HG00642.hp2
HG01496.hp1
others(24): Show 
HG00423.hp1
HG00642.hp2
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02630.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG04184.hp1
HG04204.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-27016_914-2701
others(6): Show 
c.914-27016_914-27015delGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76258131
chr5:76258244 T
T
 G
G
 2 a0001c0001t0117g0012
a0003c0004t0045g0048
a0001c0001t0117g0012
a0003c0004t0045g0048
 2 HG02258.hp2
NA19240.hp1
HG02258.hp2
NA19240.hp1
 intron_variant MODIFIER c.914-26918T>G
c.914-26918T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76258244
chr5:76258252 G
G
 C
C
 3 a0001c0001t0012g0223
a0001c0001t0070g0227
a0001c0002t0089g0081
a0001c0001t0012g0223
a0001c0001t0070g0227
a0001c0002t0089g0081
 3 HG01109.hp1
HG02647.hp1
NA19030.hp2
HG01109.hp1
HG02647.hp1
NA19030.hp2
 intron_variant MODIFIER c.914-26910G>C
c.914-26910G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76258252
chr5:76258521 T
T
 A
A
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.914-26641T>A
c.914-26641T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76258521
chr5:76258571 A
A
 G
G
 1 a0001c0001t0008g0217
a0001c0001t0008g0217
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.914-26591A>G
c.914-26591A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76258571
chr5:76258948 T
T
 A
A
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-26214T>A
c.914-26214T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76258948
chr5:76259041 T
T
 A
A
 13 a0001c0001t0008g0217
a0001c0001t0013g0085
a0001c0001t0040g0070
others(10): Show 
a0001c0001t0008g0217
a0001c0001t0013g0085
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0122g0011
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0003c0004t0009g0017
a0004c0010t0027g0110
a0004c0010t0027g0111
 13 HG00733.hp1
HG00741.hp2
HG01106.hp1
others(10): Show 
HG00733.hp1
HG00741.hp2
HG01106.hp1
HG01243.hp2
HG02258.hp1
HG02630.hp1
HG02647.hp2
HG02886.hp1
HG02896.hp2
HG03041.hp1
HG03209.hp2
HG03486.hp1
NA20129.hp2
 intron_variant MODIFIER c.914-26121T>A
c.914-26121T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76259041
chr5:76259132 C
C
 T
T
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.914-26030C>T
c.914-26030C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76259132
chr5:76259328 C
C
 T
T
 27 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(24): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
 27 HG00423.hp1
HG00642.hp2
HG01496.hp1
others(24): Show 
HG00423.hp1
HG00642.hp2
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02630.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG04184.hp1
HG04204.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-25834C>T
c.914-25834C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76259328
chr5:76259329 G
G
 A
A
 2 a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0006g0192
a0001c0002t0006g0196
 2 HG00738.hp1
HG02738.hp2
HG00738.hp1
HG02738.hp2
 intron_variant MODIFIER c.914-25833G>A
c.914-25833G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76259329
chr5:76259597 C
C
 T
T
 1 a0001c0001t0082g0220
a0001c0001t0082g0220
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.914-25565C>T
c.914-25565C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76259597
chr5:76259609 C
C
 A
A
 105 a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
others(102): Show 
a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 105 HG00140.hp2
HG00280.hp1
HG00735.hp2
others(102): Show 
HG00140.hp2
HG00280.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-25553C>A
c.914-25553C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76259609
chr5:76259938 G
G
 T
T
 134 a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
others(131): Show 
a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 134 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(131): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-25224G>T
c.914-25224G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76259938
chr5:76260017 G
G
 T
T
 28 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(25): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0029g0141
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
 28 HG00423.hp1
HG00642.hp2
HG01255.hp1
others(25): Show 
HG00423.hp1
HG00642.hp2
HG01255.hp1
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02630.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG04184.hp1
HG04204.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-25145G>T
c.914-25145G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76260017
chr5:76260199 A
A
 G
G
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.914-24963A>G
c.914-24963A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76260199
chr5:76260234 A
A
 G
G
 5 a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
others(2): Show 
a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
a0002c0008t0002g0221
a0003c0004t0066g0086
 5 HG01891.hp2
HG02559.hp2
HG02572.hp2
others(2): Show 
HG01891.hp2
HG02559.hp2
HG02572.hp2
HG02895.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-24928A>G
c.914-24928A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76260234
chr5:76260381 G
G
 C
C
 5 a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
others(2): Show 
a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
a0002c0008t0002g0221
a0003c0004t0066g0086
 5 HG01891.hp2
HG02559.hp2
HG02572.hp2
others(2): Show 
HG01891.hp2
HG02559.hp2
HG02572.hp2
HG02895.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-24781G>C
c.914-24781G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76260381
chr5:76260499 A
A
 G
G
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.914-24663A>G
c.914-24663A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76260499
chr5:76260589 G
G
 A
A
 28 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(25): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0029g0146
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
 28 HG00423.hp1
HG00642.hp2
HG01496.hp1
others(25): Show 
HG00423.hp1
HG00642.hp2
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02630.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-24573G>A
c.914-24573G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76260589
chr5:76260670 G
G
 T
T
 96 a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0003g0096
others(93): Show 
a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0104g0020
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0039g0062
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 96 HG00140.hp2
HG00280.hp1
HG00735.hp2
others(93): Show 
HG00140.hp2
HG00280.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02698.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-24492G>T
c.914-24492G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76260670
chr5:76260802 ATATCTGT
others(19): Show 
ATATCTGTTTTGGTACCAGTACCATGC
 A
A
 2 a0001c0001t0007g0122
a0001c0001t0088g0123
a0001c0001t0007g0122
a0001c0001t0088g0123
 2 HG02451.hp2
HG02486.hp2
HG02451.hp2
HG02486.hp2
 intron_variant MODIFIER c.914-24354_914-2432
others(30): Show 
c.914-24354_914-24329delGTTTTGGTACCAGTACCATGCTATCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76260802
chr5:76260841 T
T
 C
C
 1 a0002c0003t0071g0228
a0002c0003t0071g0228
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.914-24321T>C
c.914-24321T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76260841
chr5:76260958 GT
GT
 G
G
 105 a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
others(102): Show 
a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 105 HG00140.hp2
HG00280.hp1
HG00735.hp2
others(102): Show 
HG00140.hp2
HG00280.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-24197delT
c.914-24197delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76260958
chr5:76261033 C
C
 A
A
 1 a0001c0001t0130g0010
a0001c0001t0130g0010
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.914-24129C>A
c.914-24129C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76261033
chr5:76261410 T
T
 C
C
 4 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
others(1): Show 
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0002t0101g0144
 4 HG00280.hp2
HG00738.hp2
HG01433.hp2
others(1): Show 
HG00280.hp2
HG00738.hp2
HG01433.hp2
HG02735.hp1
 intron_variant MODIFIER c.914-23752T>C
c.914-23752T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76261410
chr5:76261449 G
G
 A
A
 1 a0001c0007t0007g0078
a0001c0007t0007g0078
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.914-23713G>A
c.914-23713G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76261449
chr5:76261474 T
T
 A
A
 137 a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
others(134): Show 
a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 137 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(134): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-23688T>A
c.914-23688T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76261474
chr5:76261598 T
T
 C
C
 100 a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
others(97): Show 
a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 100 HG00140.hp2
HG00280.hp1
HG00735.hp2
others(97): Show 
HG00140.hp2
HG00280.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.914-23564T>C
c.914-23564T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76261598
chr5:76261622 T
T
 C
C
 29 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(26): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
 29 HG00423.hp1
HG00642.hp2
HG01255.hp1
others(26): Show 
HG00423.hp1
HG00642.hp2
HG01255.hp1
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02630.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-23540T>C
c.914-23540T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76261622
chr5:76261687 A
A
 G
G
 1 a0001c0002t0036g0014
a0001c0002t0036g0014
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.914-23475A>G
c.914-23475A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76261687
chr5:76261702 A
A
 G
G
 3 a0001c0001t0050g0041
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0001t0050g0041
a0001c0002t0103g0148
a0001c0002t0106g0210
 3 HG02818.hp2
HG02895.hp1
HG03471.hp1
HG02818.hp2
HG02895.hp1
HG03471.hp1
 intron_variant MODIFIER c.914-23460A>G
c.914-23460A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76261702
chr5:76261815 C
C
 G
G
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-23347C>G
c.914-23347C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76261815
chr5:76262093 A
A
 G
G
 137 a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
others(134): Show 
a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 137 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(134): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-23069A>G
c.914-23069A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76262093
chr5:76262355 G
G
 A
A
 41 a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
others(38): Show 
a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0003g0170
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0032g0160
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0014g0136
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0098g0113
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0114g0125
a0001c0002t0151g0151
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
 41 HG00140.hp1
HG00558.hp1
HG00642.hp1
others(38): Show 
HG00140.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01109.hp2
HG01168.hp2
HG01258.hp1
HG01433.hp1
HG01515.hp2
HG01943.hp1
HG02015.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02602.hp1
HG02602.hp2
HG04228.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA19001.hp1
NA19005.hp2
NA19007.hp1
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-22807G>A
c.914-22807G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76262355
chr5:76262385 C
C
 T
T
 61 a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
others(58): Show 
a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0003g0170
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0098g0113
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0114g0125
a0001c0002t0151g0151
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0049g0025
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
 61 HG00140.hp1
HG00558.hp1
HG00642.hp1
others(58): Show 
HG00140.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp2
HG01258.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG04228.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA19001.hp1
NA19005.hp2
NA19007.hp1
NA19030.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp2
NA19240.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-22777C>T
c.914-22777C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76262385
chr5:76262535 A
A
 C
C
 22 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(19): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0052g0055
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0102g0234
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
 22 HG00423.hp1
HG00642.hp2
HG01255.hp1
others(19): Show 
HG00423.hp1
HG00642.hp2
HG01255.hp1
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02735.hp2
HG02886.hp2
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
NA18990.hp1
NA19011.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-22627A>C
c.914-22627A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76262535
chr5:76262537 G
G
 A
A
 7 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0093g0205
others(4): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0008t0002g0216
 7 HG02055.hp1
HG02630.hp2
HG02818.hp2
others(4): Show 
HG02055.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
NA19043.hp1
 intron_variant MODIFIER c.914-22625G>A
c.914-22625G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76262537
chr5:76262561 G
G
 A
A
 3 a0001c0001t0008g0217
a0001c0001t0040g0070
a0003c0004t0009g0017
a0001c0001t0008g0217
a0001c0001t0040g0070
a0003c0004t0009g0017
 3 HG00733.hp1
HG02630.hp1
NA20129.hp2
HG00733.hp1
HG02630.hp1
NA20129.hp2
 intron_variant MODIFIER c.914-22601G>A
c.914-22601G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76262561
chr5:76262784 T
T
 G
G
 64 a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
others(61): Show 
a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0003g0170
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0098g0113
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0114g0125
a0001c0002t0151g0151
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0049g0025
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
 64 HG00140.hp1
HG00558.hp1
HG00642.hp1
others(61): Show 
HG00140.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp2
HG01258.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG04228.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA19001.hp1
NA19005.hp2
NA19007.hp1
NA19030.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-22378T>G
c.914-22378T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76262784
chr5:76262801 TGTTGTGA
others(5): Show 
TGTTGTGATTTCC
 T
T
 8 a0001c0001t0009g0190
a0001c0002t0100g0206
a0001c0007t0007g0078
others(5): Show 
a0001c0001t0009g0190
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0003c0004t0026g0147
 8 HG02572.hp1
HG02615.hp1
HG02723.hp1
others(5): Show 
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02970.hp2
HG02976.hp1
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.914-22357_914-2234
others(16): Show 
c.914-22357_914-22346delGTGATTTCCGTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76262801
chr5:76262849 A
A
 T
T
 47 a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
others(44): Show 
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0005g0100
a0001c0001t0008g0104
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0041g0036
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0126g0172
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0014g0134
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0104g0020
a0001c0002t0110g0124
a0001c0002t0142g0001
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0005t0155g0149
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 47 HG00140.hp2
HG00280.hp1
HG00738.hp1
others(44): Show 
HG00140.hp2
HG00280.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02257.hp1
HG02280.hp1
HG02300.hp1
HG02738.hp1
HG02738.hp2
HG03704.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
NA18945.hp1
NA18951.hp1
NA18954.hp2
NA18960.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19056.hp1
NA19068.hp2
NA19081.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.914-22313A>T
c.914-22313A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76262849
chr5:76263046 C
C
 T
T
 105 a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
others(102): Show 
a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 105 HG00140.hp2
HG00280.hp1
HG00735.hp2
others(102): Show 
HG00140.hp2
HG00280.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-22116C>T
c.914-22116C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76263046
chr5:76263068 G
G
 T
T
 1 a0005c0011t0143g0015
a0005c0011t0143g0015
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.914-22094G>T
c.914-22094G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76263068
chr5:76263268 T
T
 C
C
 1 a0001c0002t0089g0081
a0001c0002t0089g0081
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.914-21894T>C
c.914-21894T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76263268
chr5:76263279 TTTTTG
TTTTTG
 T
T
 29 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(26): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
 29 HG00423.hp1
HG00642.hp2
HG01255.hp1
others(26): Show 
HG00423.hp1
HG00642.hp2
HG01255.hp1
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02630.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-21867_914-2186
others(9): Show 
c.914-21867_914-21863delTTTTG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76263279
chr5:76263288 T
T
 G
G
 1 a0001c0001t0032g0004
a0001c0001t0032g0004
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.914-21874T>G
c.914-21874T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76263288
chr5:76263504 T
T
 C
C
 7 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0093g0205
others(4): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0008t0002g0216
 7 HG02055.hp1
HG02630.hp2
HG02818.hp2
others(4): Show 
HG02055.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
NA19043.hp1
 intron_variant MODIFIER c.914-21658T>C
c.914-21658T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76263504
chr5:76263617 A
A
 G
G
 1 a0001c0001t0118g0018
a0001c0001t0118g0018
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.914-21545A>G
c.914-21545A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76263617
chr5:76263725 G
G
 C
C
 32 a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
others(29): Show 
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
a0003c0004t0009g0017
 32 HG00423.hp1
HG00642.hp2
HG00733.hp1
others(29): Show 
HG00423.hp1
HG00642.hp2
HG00733.hp1
HG01255.hp1
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03471.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.914-21437G>C
c.914-21437G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76263725
chr5:76263738 G
G
 T
T
 2 a0001c0001t0012g0223
a0001c0002t0089g0081
a0001c0001t0012g0223
a0001c0002t0089g0081
 2 HG02647.hp1
NA19030.hp2
HG02647.hp1
NA19030.hp2
 intron_variant MODIFIER c.914-21424G>T
c.914-21424G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76263738
chr5:76263761 T
T
 C
C
 1 a0001c0002t0101g0144
a0001c0002t0101g0144
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.914-21401T>C
c.914-21401T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76263761
chr5:76263820 G
G
 A
A
 1 a0001c0001t0012g0223
a0001c0001t0012g0223
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.914-21342G>A
c.914-21342G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76263820
chr5:76263846 C
C
 A
A
 5 a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
others(2): Show 
a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
a0002c0008t0002g0221
a0003c0004t0066g0086
 5 HG01891.hp2
HG02559.hp2
HG02572.hp2
others(2): Show 
HG01891.hp2
HG02559.hp2
HG02572.hp2
HG02895.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-21316C>A
c.914-21316C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76263846
chr5:76263942 G
G
 A
A
 60 a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
others(57): Show 
a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0170
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0098g0113
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0114g0125
a0001c0002t0151g0151
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0049g0025
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
 60 HG00140.hp1
HG00558.hp1
HG00642.hp1
others(57): Show 
HG00140.hp1
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp2
HG01258.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG04228.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA19001.hp1
NA19005.hp2
NA19007.hp1
NA19030.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp2
NA19240.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-21220G>A
c.914-21220G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76263942
chr5:76264018 G
G
 A
A
 100 a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
others(97): Show 
a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 100 HG00140.hp2
HG00280.hp1
HG00735.hp2
others(97): Show 
HG00140.hp2
HG00280.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.914-21144G>A
c.914-21144G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76264018
chr5:76264105 C
C
 A
A
 200 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(197): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 200 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(197): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-21057C>A
c.914-21057C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76264105
chr5:76264259 C
C
 A
A
 1 a0002c0003t0013g0226
a0002c0003t0013g0226
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.914-20903C>A
c.914-20903C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76264259
chr5:76264487 T
T
 C
C
 1 a0001c0001t0018g0067
a0001c0001t0018g0067
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.914-20675T>C
c.914-20675T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76264487
chr5:76264549 T
T
 G
G
 5 a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
others(2): Show 
a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
a0002c0008t0002g0221
a0003c0004t0066g0086
 5 HG01891.hp2
HG02559.hp2
HG02572.hp2
others(2): Show 
HG01891.hp2
HG02559.hp2
HG02572.hp2
HG02895.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-20613T>G
c.914-20613T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76264549
chr5:76264659 T
T
 C
C
 86 a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
others(83): Show 
a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 86 HG00140.hp2
HG00280.hp1
HG00738.hp1
others(83): Show 
HG00140.hp2
HG00280.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02300.hp1
HG02572.hp1
HG02615.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.914-20503T>C
c.914-20503T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76264659
chr5:76264723 G
G
 A
A
 87 a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
others(84): Show 
a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 87 HG00140.hp2
HG00280.hp1
HG00738.hp1
others(84): Show 
HG00140.hp2
HG00280.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02300.hp1
HG02572.hp1
HG02615.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.914-20439G>A
c.914-20439G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76264723
chr5:76264821 C
C
 T
T
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-20341C>T
c.914-20341C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76264821
chr5:76264858 T
T
 G
G
 7 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0093g0205
others(4): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0008t0002g0216
 7 HG02055.hp1
HG02630.hp2
HG02818.hp2
others(4): Show 
HG02055.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
NA19043.hp1
 intron_variant MODIFIER c.914-20304T>G
c.914-20304T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76264858
chr5:76264947 G
G
 A
A
 107 a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
others(104): Show 
a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0170
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0098g0113
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0114g0125
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 107 HG00140.hp1
HG00423.hp1
HG00558.hp1
others(104): Show 
HG00140.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG04184.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp2
NA19240.hp1
NA20129.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-20215G>A
c.914-20215G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76264947
chr5:76265041 C
C
 G
G
 194 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(191): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 194 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(191): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-20121C>G
c.914-20121C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76265041
chr5:76265116 T
T
 C
C
 5 a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
others(2): Show 
a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
a0002c0008t0002g0221
a0003c0004t0066g0086
 5 HG01891.hp2
HG02559.hp2
HG02572.hp2
others(2): Show 
HG01891.hp2
HG02559.hp2
HG02572.hp2
HG02895.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-20046T>C
c.914-20046T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76265116
chr5:76265223 T
T
 G
G
 2 a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0009t0076g0213
a0001c0013t0014g0119
 2 NA18998.hp2
NA19083.hp2
NA18998.hp2
NA19083.hp2
 intron_variant MODIFIER c.914-19939T>G
c.914-19939T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76265223
chr5:76265830 T
T
 C
C
 1 a0001c0001t0070g0227
a0001c0001t0070g0227
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.914-19332T>C
c.914-19332T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76265830
chr5:76265864 A
A
 C
C
 136 a0001c0001t0001g0039
a0001c0001t0001g0059
a0001c0001t0002g0023
others(133): Show 
a0001c0001t0001g0039
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 136 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(133): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-19298A>C
c.914-19298A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76265864
chr5:76265906 A
A
 G
G
 199 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(196): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 199 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(196): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-19256A>G
c.914-19256A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76265906
chr5:76265949 T
T
 A
A
 2 a0001c0001t0007g0122
a0001c0001t0088g0123
a0001c0001t0007g0122
a0001c0001t0088g0123
 2 HG02451.hp2
HG02486.hp2
HG02451.hp2
HG02486.hp2
 intron_variant MODIFIER c.914-19213T>A
c.914-19213T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76265949
chr5:76266052 C
C
 T
T
 1 a0001c0002t0020g0073
a0001c0002t0020g0073
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.914-19110C>T
c.914-19110C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76266052
chr5:76266086 A
A
 C
C
 201 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 201 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(198): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-19076A>C
c.914-19076A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76266086
chr5:76266127 ACAAATAT
others(11): Show 
ACAAATATGGCCAGTGGCC
 A
A
 195 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(192): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 195 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(192): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-19022_914-1900
others(22): Show 
c.914-19022_914-19005delGTGGCCCAAATATGGCCA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76266127
chr5:76266272 A
A
 G
G
 1 a0001c0002t0089g0081
a0001c0002t0089g0081
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.914-18890A>G
c.914-18890A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76266272
chr5:76266281 C
C
 T
T
 141 a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
others(138): Show 
a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 141 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(138): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-18881C>T
c.914-18881C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76266281
chr5:76266302 G
G
 A
A
 4 a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
others(1): Show 
a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
a0003c0004t0066g0086
 4 HG01891.hp2
HG02572.hp2
HG02895.hp2
others(1): Show 
HG01891.hp2
HG02572.hp2
HG02895.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-18860G>A
c.914-18860G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76266302
chr5:76266304 A
A
 T
T
 197 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(194): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 197 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(194): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-18858A>T
c.914-18858A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76266304
chr5:76266425 C
C
 G
G
 1 a0001c0002t0142g0001
a0001c0002t0142g0001
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.914-18737C>G
c.914-18737C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76266425
chr5:76266472 T
T
 C
C
 3 a0001c0001t0008g0217
a0001c0001t0040g0070
a0003c0004t0009g0017
a0001c0001t0008g0217
a0001c0001t0040g0070
a0003c0004t0009g0017
 3 HG00733.hp1
HG02630.hp1
NA20129.hp2
HG00733.hp1
HG02630.hp1
NA20129.hp2
 intron_variant MODIFIER c.914-18690T>C
c.914-18690T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76266472
chr5:76266569 T
T
 C
C
 197 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(194): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 197 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(194): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-18593T>C
c.914-18593T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76266569
chr5:76266580 G
G
 A
A
 197 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(194): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 197 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(194): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-18582G>A
c.914-18582G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76266580
chr5:76266762 T
T
 A
A
 137 a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
others(134): Show 
a0001c0001t0001g0039
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 137 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(134): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-18400T>A
c.914-18400T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76266762
chr5:76266789 TA
TA
 T
T
 109 a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
others(106): Show 
a0001c0001t0001g0027
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0170
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0098g0113
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0114g0125
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 109 HG00140.hp1
HG00423.hp1
HG00558.hp1
others(106): Show 
HG00140.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18981.hp2
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp2
NA19240.hp1
NA20129.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-18361delA
c.914-18361delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76266789
chr5:76266973 C
C
 T
T
 109 a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
others(106): Show 
a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0170
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0098g0113
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0114g0125
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 109 HG00140.hp1
HG00423.hp1
HG00558.hp1
others(106): Show 
HG00140.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp2
NA19240.hp1
NA20129.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-18189C>T
c.914-18189C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76266973
chr5:76267248 T
T
 C
C
 197 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(194): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 197 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(194): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-17914T>C
c.914-17914T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76267248
chr5:76267254 C
C
 T
T
 8 a0001c0001t0009g0190
a0001c0002t0100g0206
a0001c0007t0007g0078
others(5): Show 
a0001c0001t0009g0190
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0003c0004t0026g0147
 8 HG02572.hp1
HG02615.hp1
HG02723.hp1
others(5): Show 
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02970.hp2
HG02976.hp1
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.914-17908C>T
c.914-17908C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76267254
chr5:76267563 G
G
 A
A
 2 a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0005g0161
a0003c0004t0016g0101
 2 NA18960.hp1
NA19072.hp1
NA18960.hp1
NA19072.hp1
 intron_variant MODIFIER c.914-17599G>A
c.914-17599G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76267563
chr5:76267588 T
T
 C
C
 47 a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0094
others(44): Show 
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 47 HG00423.hp1
HG00642.hp1
HG00642.hp2
others(44): Show 
HG00423.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG01074.hp1
HG01255.hp1
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG04184.hp1
HG04204.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-17574T>C
c.914-17574T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76267588
chr5:76267777 A
A
 G
G
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.914-17385A>G
c.914-17385A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76267777
chr5:76267781 G
G
 A
A
 88 a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
others(85): Show 
a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 88 HG00140.hp2
HG00280.hp1
HG00738.hp1
others(85): Show 
HG00140.hp2
HG00280.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02300.hp1
HG02572.hp1
HG02615.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.914-17381G>A
c.914-17381G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76267781
chr5:76267982 C
C
 A
A
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.914-17180C>A
c.914-17180C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76267982
chr5:76268005 A
A
 C
C
 47 a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0094
others(44): Show 
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 47 HG00423.hp1
HG00642.hp1
HG00642.hp2
others(44): Show 
HG00423.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG01074.hp1
HG01255.hp1
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG04184.hp1
HG04204.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-17157A>C
c.914-17157A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268005
chr5:76268041 G
G
 A
A
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-17121G>A
c.914-17121G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268041
chr5:76268089 C
C
 T
T
 201 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(198): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 201 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(198): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-17073C>T
c.914-17073C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268089
chr5:76268183 G
G
 A
A
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-16979G>A
c.914-16979G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268183
chr5:76268356 A
A
 G
G
 155 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(152): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0006c0012t0035g0153
a0007c0014t0005g0180
 155 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(152): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00558.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.914-16806A>G
c.914-16806A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268356
chr5:76268411 C
C
 T
T
 1 a0001c0001t0070g0227
a0001c0001t0070g0227
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.914-16751C>T
c.914-16751C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268411
chr5:76268425 A
A
 C
C
 4 a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
others(1): Show 
a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
a0003c0004t0066g0086
 4 HG01891.hp2
HG02572.hp2
HG02895.hp2
others(1): Show 
HG01891.hp2
HG02572.hp2
HG02895.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-16737A>C
c.914-16737A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268425
chr5:76268473 A
A
 C
C
 7 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0093g0205
others(4): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0008t0002g0216
 7 HG02055.hp1
HG02630.hp2
HG02818.hp2
others(4): Show 
HG02055.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03471.hp1
NA19043.hp1
 intron_variant MODIFIER c.914-16689A>C
c.914-16689A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268473
chr5:76268482 G
G
 A
A
 65 a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
others(62): Show 
a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0170
a0001c0001t0008g0217
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0098g0113
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0114g0125
a0001c0002t0151g0151
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
 65 HG00140.hp1
HG00558.hp1
HG00733.hp1
others(62): Show 
HG00140.hp1
HG00558.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp2
HG01258.hp1
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp1
HG04228.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA19001.hp1
NA19005.hp2
NA19007.hp1
NA19030.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.914-16680G>A
c.914-16680G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268482
chr5:76268524 G
G
 A
A
 1 a0001c0001t0017g0034
a0001c0001t0017g0034
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.914-16638G>A
c.914-16638G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268524
chr5:76268612 A
A
 G
G
 89 a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
others(86): Show 
a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 89 HG00140.hp2
HG00280.hp1
HG00738.hp1
others(86): Show 
HG00140.hp2
HG00280.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02300.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.914-16550A>G
c.914-16550A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268612
chr5:76268620 G
G
 A
A
 46 a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
others(43): Show 
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 46 HG00423.hp1
HG00642.hp1
HG00642.hp2
others(43): Show 
HG00423.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG01074.hp1
HG01255.hp1
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02615.hp2
HG02630.hp2
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG04184.hp1
HG04204.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-16542G>A
c.914-16542G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268620
chr5:76268675 T
T
 C
C
 156 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(153): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0073
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0006c0012t0035g0153
a0007c0014t0005g0180
 156 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(153): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00558.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.914-16487T>C
c.914-16487T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268675
chr5:76268769 G
G
 T
T
 1 a0001c0002t0015g0121
a0001c0002t0015g0121
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.914-16393G>T
c.914-16393G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268769
chr5:76268870 G
G
 T
T
 1 a0001c0002t0036g0014
a0001c0002t0036g0014
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.914-16292G>T
c.914-16292G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268870
chr5:76268962 G
G
 A
A
 1 a0001c0002t0029g0141
a0001c0002t0029g0141
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.914-16200G>A
c.914-16200G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76268962
chr5:76269002 C
C
 T
T
 1 a0001c0002t0006g0177
a0001c0002t0006g0177
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.914-16160C>T
c.914-16160C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76269002
chr5:76269118 C
C
 T
T
 1 a0001c0002t0144g0155
a0001c0002t0144g0155
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.914-16044C>T
c.914-16044C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76269118
chr5:76269487 C
C
 T
T
 106 a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
others(103): Show 
a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0170
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0136g0095
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0013g0082
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0098g0113
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0114g0125
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 106 HG00140.hp1
HG00423.hp1
HG00558.hp1
others(103): Show 
HG00140.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp2
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp2
NA18990.hp1
NA18992.hp1
NA18998.hp1
NA19001.hp1
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp2
NA19240.hp1
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-15675C>T
c.914-15675C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76269487
chr5:76269534 T
T
 A
A
 202 a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
others(199): Show 
a0001c0001t0001g0027
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 202 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(199): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00558.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01981.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19079.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-15628T>A
c.914-15628T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76269534
chr5:76269538 T
T
 C
C
 143 a0001c0001t0001g0039
a0001c0001t0001g0059
a0001c0001t0002g0023
others(140): Show 
a0001c0001t0001g0039
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 143 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(140): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-15624T>C
c.914-15624T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76269538
chr5:76269567 G
G
 A
A
 1 a0001c0007t0007g0078
a0001c0007t0007g0078
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.914-15595G>A
c.914-15595G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76269567
chr5:76269569 G
G
 A
A
 3 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0131g0181
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0131g0181
 3 HG00642.hp2
HG02559.hp1
HG03139.hp2
HG00642.hp2
HG02559.hp1
HG03139.hp2
 intron_variant MODIFIER c.914-15593G>A
c.914-15593G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76269569
chr5:76269575 G
G
 T
T
 3 a0001c0001t0008g0217
a0001c0001t0040g0070
a0003c0004t0009g0017
a0001c0001t0008g0217
a0001c0001t0040g0070
a0003c0004t0009g0017
 3 HG00733.hp1
HG02630.hp1
NA20129.hp2
HG00733.hp1
HG02630.hp1
NA20129.hp2
 intron_variant MODIFIER c.914-15587G>T
c.914-15587G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76269575
chr5:76269634 T
T
 A
A
 4 a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
others(1): Show 
a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
a0003c0004t0066g0086
 4 HG01891.hp2
HG02572.hp2
HG02895.hp2
others(1): Show 
HG01891.hp2
HG02572.hp2
HG02895.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-15528T>A
c.914-15528T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76269634
chr5:76269805 G
G
 A
A
 4 a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
others(1): Show 
a0001c0001t0084g0090
a0001c0002t0109g0209
a0002c0003t0044g0074
a0003c0004t0066g0086
 4 HG01891.hp2
HG02572.hp2
HG02895.hp2
others(1): Show 
HG01891.hp2
HG02572.hp2
HG02895.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-15357G>A
c.914-15357G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76269805
chr5:76270028 A
A
 G
G
 96 a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
others(93): Show 
a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 96 HG00140.hp2
HG00280.hp1
HG00733.hp1
others(93): Show 
HG00140.hp2
HG00280.hp1
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-15134A>G
c.914-15134A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76270028
chr5:76270032 G
G
 T
T
 39 a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
others(36): Show 
a0001c0001t0001g0027
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0003g0170
a0001c0001t0011g0056
a0001c0001t0018g0044
a0001c0001t0022g0214
a0001c0001t0032g0160
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0073g0089
a0001c0001t0121g0097
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0002t0014g0136
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0037g0194
a0001c0002t0089g0081
a0001c0002t0098g0113
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0114g0125
a0001c0002t0151g0151
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0116g0126
 39 HG00140.hp1
HG00558.hp1
HG00733.hp2
others(36): Show 
HG00140.hp1
HG00558.hp1
HG00733.hp2
HG00735.hp1
HG01109.hp2
HG01168.hp2
HG01258.hp1
HG01433.hp1
HG01515.hp2
HG01943.hp1
HG02015.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02602.hp2
HG04228.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18975.hp1
NA18981.hp2
NA18992.hp1
NA18998.hp1
NA19001.hp1
NA19005.hp2
NA19007.hp1
NA19030.hp2
NA19063.hp1
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp2
NA21309.hp2
 intron_variant MODIFIER c.914-15130G>T
c.914-15130G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76270032
chr5:76270359 G
G
 A
A
 5 a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0001t0122g0011
others(2): Show 
a0001c0001t0008g0217
a0001c0001t0040g0070
a0001c0001t0122g0011
a0002c0003t0129g0188
a0003c0004t0009g0017
 5 HG00733.hp1
HG01243.hp2
HG02630.hp1
others(2): Show 
HG00733.hp1
HG01243.hp2
HG02630.hp1
HG03041.hp1
NA20129.hp2
 intron_variant MODIFIER c.914-14803G>A
c.914-14803G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76270359
chr5:76270623 T
T
 C
C
 100 a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
others(97): Show 
a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0221
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0066g0086
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0006c0012t0035g0153
a0007c0014t0005g0180
 100 HG00140.hp2
HG00280.hp1
HG00738.hp1
others(97): Show 
HG00140.hp2
HG00280.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-14539T>C
c.914-14539T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76270623
chr5:76270681 C
C
 T
T
 46 a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
others(43): Show 
a0001c0001t0002g0023
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0025g0231
a0001c0001t0043g0028
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0083g0204
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 46 HG00423.hp1
HG00642.hp1
HG00642.hp2
others(43): Show 
HG00423.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG01074.hp1
HG01255.hp1
HG01496.hp1
HG01884.hp2
HG02015.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02615.hp2
HG02630.hp2
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG04184.hp1
HG04204.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-14481C>T
c.914-14481C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76270681
chr5:76270775 AT
AT
 A
A
 8 a0001c0001t0009g0190
a0001c0002t0100g0206
a0001c0007t0007g0078
others(5): Show 
a0001c0001t0009g0190
a0001c0002t0100g0206
a0001c0007t0007g0078
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0095g0091
a0003c0004t0026g0147
 8 HG02572.hp1
HG02615.hp1
HG02723.hp1
others(5): Show 
HG02572.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp2
HG02970.hp2
HG02976.hp1
HG03209.hp1
HG03225.hp2
 intron_variant MODIFIER c.914-14376delT
c.914-14376delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76270775
chr5:76270778 T
T
 A
A
 2 a0001c0001t0040g0070
a0003c0004t0009g0017
a0001c0001t0040g0070
a0003c0004t0009g0017
 2 HG02630.hp1
NA20129.hp2
HG02630.hp1
NA20129.hp2
 intron_variant MODIFIER c.914-14384T>A
c.914-14384T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76270778
chr5:76270792 A
A
 G
G
 4 a0001c0001t0007g0093
a0001c0001t0011g0040
a0001c0001t0047g0046
others(1): Show 
a0001c0001t0007g0093
a0001c0001t0011g0040
a0001c0001t0047g0046
a0002c0003t0026g0230
 4 HG02723.hp2
HG02970.hp1
HG03041.hp2
others(1): Show 
HG02723.hp2
HG02970.hp1
HG03041.hp2
NA18522.hp1
 intron_variant MODIFIER c.914-14370A>G
c.914-14370A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76270792
chr5:76270957 C
C
 T
T
 1 a0001c0001t0003g0167
a0001c0001t0003g0167
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.914-14205C>T
c.914-14205C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76270957
chr5:76270984 A
A
 G
G
 147 a0001c0001t0001g0039
a0001c0001t0001g0059
a0001c0001t0002g0023
others(144): Show 
a0001c0001t0001g0039
a0001c0001t0001g0059
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0012g0222
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0066g0086
a0003c0004t0140g0163
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
a0006c0012t0035g0153
a0007c0014t0005g0180
 147 HG00140.hp2
HG00280.hp1
HG00423.hp1
others(144): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-14178A>G
c.914-14178A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76270984
chr5:76271266 A
A
 G
G
 1 a0001c0001t0012g0223
a0001c0001t0012g0223
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.914-13896A>G
c.914-13896A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76271266
chr5:76271337 T
T
 A
A
 1 a0001c0002t0089g0081
a0001c0002t0089g0081
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.914-13825T>A
c.914-13825T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76271337
chr5:76271388 G
G
 A
A
 2 a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0054g0063
a0001c0001t0055g0064
 2 NA18951.hp2
NA18975.hp1
NA18951.hp2
NA18975.hp1
 intron_variant MODIFIER c.914-13774G>A
c.914-13774G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76271388
chr5:76271496 C
C
 G
G
 91 a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
others(88): Show 
a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0004g0080
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0007g0093
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0047g0046
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0084g0090
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0119g0187
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0066g0086
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 91 HG00140.hp2
HG00280.hp1
HG00738.hp1
others(88): Show 
HG00140.hp2
HG00280.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01106.hp2
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03209.hp1
HG03225.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-13666C>G
c.914-13666C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76271496
chr5:76271616 C
C
 CT
CT
 5 a0001c0001t0010g0033
a0001c0002t0015g0135
a0001c0009t0134g0182
others(2): Show 
a0001c0001t0010g0033
a0001c0002t0015g0135
a0001c0009t0134g0182
a0002c0006t0094g0142
a0003c0004t0019g0145
 5 HG00738.hp2
HG01928.hp2
HG02698.hp1
others(2): Show 
HG00738.hp2
HG01928.hp2
HG02698.hp1
NA18955.hp1
NA19081.hp2
 intron_variant MODIFIER c.914-13522dupT
c.914-13522dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76271616
chr5:76271616 CT
CT
 C
C
 81 a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
others(78): Show 
a0001c0001t0001g0039
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0005g0100
a0001c0001t0005g0162
a0001c0001t0008g0104
a0001c0001t0008g0130
a0001c0001t0009g0190
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0031g0179
a0001c0001t0041g0036
a0001c0001t0046g0050
a0001c0001t0053g0045
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0135g0198
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0146
a0001c0002t0037g0154
a0001c0002t0060g0052
a0001c0002t0064g0038
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0110g0124
a0001c0002t0112g0116
a0001c0002t0142g0001
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0154g0197
a0001c0007t0004g0079
a0001c0007t0007g0078
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0221
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0057g0071
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0034g0173
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0006c0012t0035g0153
a0007c0014t0005g0180
 81 HG00140.hp2
HG00280.hp1
HG00738.hp1
others(78): Show 
HG00140.hp2
HG00280.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01928.hp1
HG01981.hp1
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02965.hp2
HG02970.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp2
NA18906.hp1
NA18945.hp1
NA18945.hp2
NA18951.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18975.hp2
NA18990.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp2
NA19068.hp2
NA19081.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.914-13522delT
c.914-13522delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76271616
chr5:76271616 CTT
CTT
 C
C
 12 a0001c0001t0002g0023
a0001c0001t0012g0223
a0001c0001t0048g0047
others(9): Show 
a0001c0001t0002g0023
a0001c0001t0012g0223
a0001c0001t0048g0047
a0001c0001t0052g0055
a0001c0001t0068g0092
a0001c0001t0117g0012
a0001c0002t0006g0177
a0001c0002t0035g0178
a0001c0002t0111g0133
a0001c0002t0153g0200
a0002c0003t0013g0226
a0003c0004t0026g0147
 12 HG00735.hp2
HG01123.hp2
HG01256.hp1
others(9): Show 
HG00735.hp2
HG01123.hp2
HG01256.hp1
HG01256.hp2
HG02109.hp1
HG02257.hp1
HG02258.hp2
HG02572.hp1
HG02647.hp1
HG02896.hp1
HG02896.hp2
HG04184.hp1
 intron_variant MODIFIER c.914-13523_914-1352
others(6): Show 
c.914-13523_914-13522delTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76271616
chr5:76271616 CTTT
CTTT
 C
C
 44 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
others(41): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0043g0028
a0001c0001t0050g0041
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0066g0086
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 44 HG00423.hp1
HG00642.hp1
HG00642.hp2
others(41): Show 
HG00423.hp1
HG00642.hp1
HG00642.hp2
HG01074.hp1
HG01255.hp1
HG01496.hp1
HG01891.hp2
HG02015.hp2
HG02055.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp2
HG02735.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG04204.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-13524_914-1352
others(7): Show 
c.914-13524_914-13522delTTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76271616
chr5:76271688 C
C
 T
T
 6 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0093g0205
others(3): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0107g0207
a0002c0008t0002g0216
 6 HG02055.hp1
HG02630.hp2
HG02818.hp2
others(3): Show 
HG02055.hp1
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.914-13474C>T
c.914-13474C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76271688
chr5:76271714 G
G
 T
T
 5 a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0131g0181
others(2): Show 
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0131g0181
a0001c0002t0106g0210
a0002c0003t0087g0021
 5 HG00642.hp2
HG02559.hp1
HG03139.hp2
others(2): Show 
HG00642.hp2
HG02559.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
 intron_variant MODIFIER c.914-13448G>T
c.914-13448G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76271714
chr5:76271763 G
G
 C
C
 47 a0001c0001t0002g0023
a0001c0001t0002g0224
a0001c0001t0004g0080
others(44): Show 
a0001c0001t0002g0023
a0001c0001t0002g0224
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0012g0083
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0131g0181
a0001c0001t0133g0157
a0001c0001t0157g0029
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0029g0141
a0001c0002t0093g0205
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0044g0074
a0002c0003t0087g0021
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0066g0086
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0005c0011t0143g0015
 47 HG00423.hp1
HG00642.hp1
HG00642.hp2
others(44): Show 
HG00423.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG01074.hp1
HG01255.hp1
HG01496.hp1
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG04184.hp1
HG04204.hp1
NA18990.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-13399G>C
c.914-13399G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76271763
chr5:76271821 G
G
 A
A
 5 a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0093g0205
others(2): Show 
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0093g0205
a0001c0002t0103g0148
a0001c0002t0107g0207
 5 HG02630.hp2
HG02818.hp2
HG02895.hp1
others(2): Show 
HG02630.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
NA19043.hp1
 intron_variant MODIFIER c.914-13341G>A
c.914-13341G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76271821
chr5:76271827 A
A
 C
C
 1 a0001c0002t0013g0082
a0001c0002t0013g0082
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.914-13335A>C
c.914-13335A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76271827
chr5:76271906 T
T
 C
C
 3 a0001c0001t0122g0011
a0002c0003t0013g0226
a0002c0003t0129g0188
a0001c0001t0122g0011
a0002c0003t0013g0226
a0002c0003t0129g0188
 3 HG01243.hp2
HG02896.hp1
HG03041.hp1
HG01243.hp2
HG02896.hp1
HG03041.hp1
 intron_variant MODIFIER c.914-13256T>C
c.914-13256T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76271906
chr5:76272173 G
G
 A
A
 29 a0001c0001t0002g0094
a0001c0001t0004g0229
a0001c0001t0009g0008
others(26): Show 
a0001c0001t0002g0094
a0001c0001t0004g0229
a0001c0001t0009g0008
a0001c0001t0013g0085
a0001c0001t0025g0231
a0001c0001t0050g0041
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0125g0007
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0037g0194
a0001c0002t0098g0113
a0001c0002t0102g0234
a0001c0002t0103g0148
a0001c0002t0104g0020
a0001c0002t0107g0207
a0001c0002t0110g0124
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0008t0002g0221
a0006c0012t0035g0153
 29 HG00738.hp1
HG01109.hp1
HG01361.hp1
others(26): Show 
HG00738.hp1
HG01109.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp2
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02630.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03540.hp2
HG04204.hp1
NA19043.hp2
NA20129.hp1
NA20905.hp1
 intron_variant MODIFIER c.914-12989G>A
c.914-12989G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76272173
chr5:76272228 A
A
 G
G
 122 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0054
others(119): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0003g0096
a0001c0001t0003g0165
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0099
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0217
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0040
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0031g0179
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0050g0041
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0006g0174
a0001c0002t0006g0196
a0001c0002t0014g0134
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0102g0234
a0001c0002t0105g0117
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0111g0133
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0148g0158
a0001c0002t0151g0151
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0091g0107
a0003c0005t0034g0173
a0003c0005t0155g0149
a0005c0011t0143g0015
a0007c0014t0005g0180
 122 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(119): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00558.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp2
HG01109.hp2
HG01123.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01943.hp2
HG01981.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19005.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19081.hp1
NA19083.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.914-12934A>G
c.914-12934A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76272228
chr5:76272327 A
A
 AT
AT
 3 a0001c0001t0042g0072
a0002c0003t0080g0084
a0002c0003t0129g0188
a0001c0001t0042g0072
a0002c0003t0080g0084
a0002c0003t0129g0188
 3 HG01243.hp2
HG03195.hp1
HG03209.hp2
HG01243.hp2
HG03195.hp1
HG03209.hp2
 intron_variant MODIFIER c.914-12834dupT
c.914-12834dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76272327
chr5:76272354 T
T
 C
C
 6 a0001c0001t0068g0092
a0001c0001t0074g0208
a0001c0001t0122g0011
others(3): Show 
a0001c0001t0068g0092
a0001c0001t0074g0208
a0001c0001t0122g0011
a0001c0001t0133g0157
a0001c0002t0149g0019
a0002c0003t0071g0228
 6 HG02896.hp2
HG02970.hp2
HG03041.hp1
others(3): Show 
HG02896.hp2
HG02970.hp2
HG03041.hp1
HG03540.hp1
HG03540.hp2
HG04204.hp1
 intron_variant MODIFIER c.914-12808T>C
c.914-12808T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76272354
chr5:76272477 C
C
 T
T
 4 a0001c0002t0013g0082
a0003c0004t0057g0071
a0003c0004t0066g0086
others(1): Show 
a0001c0002t0013g0082
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0139g0016
 4 HG01884.hp1
HG02895.hp2
HG03130.hp2
others(1): Show 
HG01884.hp1
HG02895.hp2
HG03130.hp2
NA18522.hp2
 intron_variant MODIFIER c.914-12685C>T
c.914-12685C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76272477
chr5:76272510 T
T
 C
C
 1 a0001c0001t0128g0006
a0001c0001t0128g0006
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.914-12652T>C
c.914-12652T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76272510
chr5:76272601 G
G
 GTGTTT
GTGTTT
 6 a0001c0001t0032g0004
a0001c0001t0040g0070
a0001c0001t0053g0045
others(3): Show 
a0001c0001t0032g0004
a0001c0001t0040g0070
a0001c0001t0053g0045
a0001c0002t0112g0116
a0003c0004t0009g0017
a0003c0004t0026g0147
 6 HG00423.hp2
HG02572.hp1
HG02630.hp1
others(3): Show 
HG00423.hp2
HG02572.hp1
HG02630.hp1
HG03704.hp1
NA19056.hp2
NA20129.hp2
 intron_variant MODIFIER c.914-12544_914-1254
others(9): Show 
c.914-12544_914-12540dupGTTTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76272601
chr5:76272878 A
A
 C
C
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-12284A>C
c.914-12284A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76272878
chr5:76272938 ATT
ATT
 A
A
 5 a0001c0001t0040g0070
a0001c0001t0068g0092
a0001c0001t0133g0157
others(2): Show 
a0001c0001t0040g0070
a0001c0001t0068g0092
a0001c0001t0133g0157
a0003c0004t0009g0017
a0003c0004t0026g0147
 5 HG02572.hp1
HG02630.hp1
HG02896.hp2
others(2): Show 
HG02572.hp1
HG02630.hp1
HG02896.hp2
HG04204.hp1
NA20129.hp2
 intron_variant MODIFIER c.914-12222_914-1222
others(6): Show 
c.914-12222_914-12221delTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76272938
chr5:76272971 T
T
 C
C
 13 a0001c0001t0002g0094
a0001c0001t0009g0008
a0001c0001t0025g0231
others(10): Show 
a0001c0001t0002g0094
a0001c0001t0009g0008
a0001c0001t0025g0231
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0004c0010t0027g0110
a0004c0010t0027g0111
 13 HG00741.hp2
HG01106.hp1
HG01884.hp2
others(10): Show 
HG00741.hp2
HG01106.hp1
HG01884.hp2
HG01891.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03195.hp2
HG03540.hp2
NA19030.hp2
 intron_variant MODIFIER c.914-12191T>C
c.914-12191T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76272971
chr5:76273019 C
C
 A
A
 12 a0001c0001t0040g0070
a0001c0001t0068g0092
a0001c0001t0133g0157
others(9): Show 
a0001c0001t0040g0070
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0009g0186
a0002c0003t0013g0226
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
 12 HG01496.hp1
HG02572.hp1
HG02630.hp1
others(9): Show 
HG01496.hp1
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02896.hp1
HG02896.hp2
HG02970.hp2
HG03209.hp1
HG04204.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.914-12143C>A
c.914-12143C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76273019
chr5:76273132 T
T
 C
C
 1 a0001c0001t0081g0202
a0001c0001t0081g0202
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.914-12030T>C
c.914-12030T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76273132
chr5:76273146 G
G
 GAT
GAT
 11 a0001c0001t0052g0055
a0001c0001t0135g0198
a0001c0001t0157g0029
others(8): Show 
a0001c0001t0052g0055
a0001c0001t0135g0198
a0001c0001t0157g0029
a0001c0002t0006g0174
a0001c0002t0009g0186
a0001c0002t0020g0073
a0001c0002t0099g0132
a0001c0002t0145g0189
a0002c0003t0021g0105
a0002c0003t0067g0109
a0003c0005t0019g0060
 11 HG00423.hp1
HG01123.hp1
HG01261.hp1
others(8): Show 
HG00423.hp1
HG01123.hp1
HG01261.hp1
HG01261.hp2
HG01943.hp1
HG04184.hp1
NA19030.hp1
NA19063.hp1
NA19079.hp1
NA19084.hp2
NA20300.hp1
 intron_variant MODIFIER c.914-11992_914-1199
others(6): Show 
c.914-11992_914-11991dupTA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76273146
chr5:76273146 G
G
 GATAT
GATAT
 3 a0001c0001t0008g0127
a0001c0001t0090g0106
a0002c0003t0001g0026
a0001c0001t0008g0127
a0001c0001t0090g0106
a0002c0003t0001g0026
 3 HG01981.hp1
HG02083.hp2
NA19011.hp1
HG01981.hp1
HG02083.hp2
NA19011.hp1
 intron_variant MODIFIER c.914-11994_914-1199
others(8): Show 
c.914-11994_914-11991dupTATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76273146
chr5:76273146 G
G
 GATATAT
GATATAT
 3 a0001c0001t0012g0083
a0001c0001t0070g0227
a0001c0015t0079g0087
a0001c0001t0012g0083
a0001c0001t0070g0227
a0001c0015t0079g0087
 3 HG01109.hp1
HG02615.hp2
HG03225.hp1
HG01109.hp1
HG02615.hp2
HG03225.hp1
 intron_variant MODIFIER c.914-11996_914-1199
others(10): Show 
c.914-11996_914-11991dupTATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76273146
chr5:76273146 G
G
 GATATATA
others(3): Show 
GATATATATAT
 1 a0005c0011t0143g0015
a0005c0011t0143g0015
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.914-12000_914-1199
others(14): Show 
c.914-12000_914-11991dupTATATATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76273146
chr5:76273146 G
G
 GATATATA
others(7): Show 
GATATATATATATAT
 2 a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0017g0030
a0002c0003t0049g0025
 2 HG02647.hp2
HG02976.hp2
HG02647.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-12004_914-1199
others(18): Show 
c.914-12004_914-11991dupTATATATATATATA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76273146
chr5:76273146 GAT
GAT
 G
G
 12 a0001c0001t0001g0057
a0001c0001t0003g0167
a0001c0001t0003g0171
others(9): Show 
a0001c0001t0001g0057
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0022g0214
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0123g0002
a0001c0002t0142g0001
a0001c0002t0149g0019
a0004c0010t0027g0110
a0004c0010t0027g0111
 12 HG00741.hp2
HG01106.hp1
HG02056.hp2
others(9): Show 
HG00741.hp2
HG01106.hp1
HG02056.hp2
HG02083.hp1
HG02258.hp1
HG02451.hp2
HG02818.hp1
HG03540.hp2
NA18945.hp1
NA18952.hp1
NA18955.hp2
NA19068.hp1
 intron_variant MODIFIER c.914-11992_914-1199
others(6): Show 
c.914-11992_914-11991delTA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76273146
chr5:76273162 TATATATA
others(3): Show 
TATATATATAC
 T
T
 27 a0001c0001t0032g0160
a0001c0002t0013g0082
a0003c0004t0005g0161
others(24): Show 
a0001c0001t0032g0160
a0001c0002t0013g0082
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 27 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(24): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG02015.hp1
HG02145.hp2
HG02895.hp2
HG03130.hp1
HG03130.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-11998_914-1198
others(14): Show 
c.914-11998_914-11989delTATATATACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76273162
chr5:76273170 T
T
 TAC
TAC
 4 a0001c0001t0040g0070
a0001c0001t0068g0092
a0003c0004t0009g0017
others(1): Show 
a0001c0001t0040g0070
a0001c0001t0068g0092
a0003c0004t0009g0017
a0003c0004t0026g0147
 4 HG02572.hp1
HG02630.hp1
HG02896.hp2
others(1): Show 
HG02572.hp1
HG02630.hp1
HG02896.hp2
NA20129.hp2
 intron_variant MODIFIER c.914-11986_914-1198
others(6): Show 
c.914-11986_914-11985dupCA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76273170
chr5:76273170 TAC
TAC
 T
T
 4 a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
others(1): Show 
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 4 HG02055.hp1
HG02451.hp1
HG02559.hp2
others(1): Show 
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02922.hp2
 intron_variant MODIFIER c.914-11986_914-1198
others(6): Show 
c.914-11986_914-11985delCA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76273170
chr5:76273172 C
C
 T
T
 3 a0002c0003t0080g0084
a0002c0003t0129g0188
a0003c0005t0019g0060
a0002c0003t0080g0084
a0002c0003t0129g0188
a0003c0005t0019g0060
 3 HG01243.hp2
HG01943.hp1
HG03209.hp2
HG01243.hp2
HG01943.hp1
HG03209.hp2
 intron_variant MODIFIER c.914-11990C>T
c.914-11990C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76273172
chr5:76273181 A
A
 G
G
 5 a0001c0001t0040g0070
a0001c0001t0068g0092
a0001c0001t0133g0157
others(2): Show 
a0001c0001t0040g0070
a0001c0001t0068g0092
a0001c0001t0133g0157
a0003c0004t0009g0017
a0003c0004t0026g0147
 5 HG02572.hp1
HG02630.hp1
HG02896.hp2
others(2): Show 
HG02572.hp1
HG02630.hp1
HG02896.hp2
HG04204.hp1
NA20129.hp2
 intron_variant MODIFIER c.914-11981A>G
c.914-11981A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76273181
chr5:76273312 T
T
 A
A
 2 a0001c0002t0108g0120
a0001c0002t0144g0155
a0001c0002t0108g0120
a0001c0002t0144g0155
 2 HG02602.hp2
HG02698.hp2
HG02602.hp2
HG02698.hp2
 intron_variant MODIFIER c.914-11850T>A
c.914-11850T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76273312
chr5:76273507 C
C
 A
A
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.914-11655C>A
c.914-11655C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76273507
chr5:76273534 C
C
 A
A
 1 a0001c0001t0005g0162
a0001c0001t0005g0162
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.914-11628C>A
c.914-11628C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76273534
chr5:76273557 G
G
 T
T
 4 a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
others(1): Show 
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 4 HG02055.hp1
HG02451.hp1
HG02559.hp2
others(1): Show 
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02922.hp2
 intron_variant MODIFIER c.914-11605G>T
c.914-11605G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76273557
chr5:76273677 A
A
 G
G
 42 a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0068g0092
others(39): Show 
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0068g0092
a0001c0001t0133g0157
a0001c0002t0013g0082
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 42 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(39): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG04204.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-11485A>G
c.914-11485A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76273677
chr5:76273681 C
C
 T
T
 1 a0001c0001t0092g0211
a0001c0001t0092g0211
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.914-11481C>T
c.914-11481C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76273681
chr5:76273684 G
G
 A
A
 1 a0001c0001t0065g0233
a0001c0001t0065g0233
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.914-11478G>A
c.914-11478G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76273684
chr5:76273799 C
C
 T
T
 2 a0002c0003t0049g0025
a0002c0003t0086g0088
a0002c0003t0049g0025
a0002c0003t0086g0088
 2 HG02647.hp2
HG02717.hp1
HG02647.hp2
HG02717.hp1
 intron_variant MODIFIER c.914-11363C>T
c.914-11363C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76273799
chr5:76273901 C
C
 T
T
 5 a0002c0003t0017g0030
a0002c0008t0002g0216
a0002c0008t0002g0218
others(2): Show 
a0002c0003t0017g0030
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 5 HG02055.hp1
HG02451.hp1
HG02559.hp2
others(2): Show 
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02922.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-11261C>T
c.914-11261C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76273901
chr5:76273950 G
G
 A
A
 1 a0001c0001t0051g0035
a0001c0001t0051g0035
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.914-11212G>A
c.914-11212G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76273950
chr5:76274018 A
A
 T
T
 53 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
others(50): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 53 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(50): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19030.hp2
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-11144A>T
c.914-11144A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76274018
chr5:76274019 A
A
 C
C
 53 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
others(50): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 53 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(50): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19030.hp2
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-11143A>C
c.914-11143A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76274019
chr5:76274682 TTC
TTC
 T
T
 13 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0046g0050
others(10): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0004c0010t0027g0110
a0004c0010t0027g0111
 13 HG00741.hp2
HG01106.hp1
HG01884.hp2
others(10): Show 
HG00741.hp2
HG01106.hp1
HG01884.hp2
HG01891.hp2
HG02145.hp1
HG02258.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03195.hp2
HG03540.hp2
NA19030.hp2
 intron_variant MODIFIER c.914-10478_914-1047
others(6): Show 
c.914-10478_914-10477delCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76274682
chr5:76274684 C
C
 CT
CT
 128 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0059
others(125): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0059
a0001c0001t0003g0098
a0001c0001t0003g0170
a0001c0001t0005g0099
a0001c0001t0005g0162
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0056
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0023g0102
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0031g0179
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0053g0045
a0001c0001t0054g0063
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0128g0006
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0020g0073
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0096g0112
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0111g0133
a0001c0002t0112g0116
a0001c0002t0144g0155
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0006c0012t0035g0153
a0007c0014t0005g0180
 128 HG00140.hp2
HG00280.hp1
HG00423.hp2
others(125): Show 
HG00140.hp2
HG00280.hp1
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG01074.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18906.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18966.hp1
NA18968.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19001.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19063.hp1
NA19068.hp2
NA19072.hp1
NA19081.hp1
NA19081.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-10465dupT
c.914-10465dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76274684
chr5:76274833 A
A
 G
G
 55 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
others(52): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 55 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(52): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19030.hp2
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-10329A>G
c.914-10329A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76274833
chr5:76274961 A
A
 T
T
 13 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0046g0050
others(10): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0004c0010t0027g0110
a0004c0010t0027g0111
 13 HG00741.hp2
HG01106.hp1
HG01884.hp2
others(10): Show 
HG00741.hp2
HG01106.hp1
HG01884.hp2
HG01891.hp2
HG02145.hp1
HG02258.hp1
HG02451.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03195.hp2
HG03540.hp2
NA19030.hp2
 intron_variant MODIFIER c.914-10201A>T
c.914-10201A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76274961
chr5:76275006 A
A
 G
G
 1 a0003c0004t0012g0222
a0003c0004t0012g0222
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.914-10156A>G
c.914-10156A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275006
chr5:76275011 C
C
 T
T
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.914-10151C>T
c.914-10151C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275011
chr5:76275223 C
C
 A
A
 55 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
others(52): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 55 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(52): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19030.hp2
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-9939C>A
c.914-9939C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275223
chr5:76275248 G
G
 A
A
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.914-9914G>A
c.914-9914G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275248
chr5:76275277 A
A
 C
C
 3 a0001c0001t0040g0070
a0003c0004t0009g0017
a0003c0004t0026g0147
a0001c0001t0040g0070
a0003c0004t0009g0017
a0003c0004t0026g0147
 3 HG02572.hp1
HG02630.hp1
NA20129.hp2
HG02572.hp1
HG02630.hp1
NA20129.hp2
 intron_variant MODIFIER c.914-9885A>C
c.914-9885A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275277
chr5:76275284 A
A
 G
G
 55 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
others(52): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 55 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(52): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19030.hp2
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-9878A>G
c.914-9878A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275284
chr5:76275419 A
A
 G
G
 55 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
others(52): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 55 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(52): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19030.hp2
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-9743A>G
c.914-9743A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275419
chr5:76275423 C
C
 A
A
 55 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
others(52): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 55 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(52): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19030.hp2
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-9739C>A
c.914-9739C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275423
chr5:76275486 C
C
 CA
CA
 72 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
others(69): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0003g0096
a0001c0001t0003g0170
a0001c0001t0004g0219
a0001c0001t0011g0040
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0048g0047
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0035g0178
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0129g0188
a0002c0006t0061g0049
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 72 HG00280.hp1
HG00642.hp1
HG00642.hp2
others(69): Show 
HG00280.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01123.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA18990.hp2
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19072.hp1
NA19083.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-9662dupA
c.914-9662dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76275486
chr5:76275501 C
C
 T
T
 4 a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
others(1): Show 
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 4 HG02055.hp1
HG02451.hp1
HG02559.hp2
others(1): Show 
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02922.hp2
 intron_variant MODIFIER c.914-9661C>T
c.914-9661C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275501
chr5:76275528 T
T
 C
C
 55 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
others(52): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 55 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(52): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19030.hp2
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-9634T>C
c.914-9634T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275528
chr5:76275548 C
C
 G
G
 1 a0001c0001t0133g0157
a0001c0001t0133g0157
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.914-9614C>G
c.914-9614C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275548
chr5:76275635 A
A
 G
G
 2 a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0003t0080g0084
a0002c0003t0129g0188
 2 HG01243.hp2
HG03209.hp2
HG01243.hp2
HG03209.hp2
 intron_variant MODIFIER c.914-9527A>G
c.914-9527A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275635
chr5:76275686 C
C
 T
T
 55 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
others(52): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 55 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(52): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19030.hp2
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-9476C>T
c.914-9476C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275686
chr5:76275739 T
T
 G
G
 19 a0001c0001t0032g0160
a0003c0004t0005g0161
a0003c0004t0016g0101
others(16): Show 
a0001c0001t0032g0160
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 19 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(16): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01496.hp2
HG01943.hp1
HG02015.hp1
HG02145.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-9423T>G
c.914-9423T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275739
chr5:76275741 A
A
 T
T
 5 a0002c0003t0017g0030
a0002c0008t0002g0216
a0002c0008t0002g0218
others(2): Show 
a0002c0003t0017g0030
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 5 HG02055.hp1
HG02451.hp1
HG02559.hp2
others(2): Show 
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02922.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-9421A>T
c.914-9421A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275741
chr5:76275922 C
C
 T
T
 1 a0001c0001t0018g0067
a0001c0001t0018g0067
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.914-9240C>T
c.914-9240C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76275922
chr5:76276185 T
T
 C
C
 2 a0002c0003t0049g0025
a0002c0003t0086g0088
a0002c0003t0049g0025
a0002c0003t0086g0088
 2 HG02647.hp2
HG02717.hp1
HG02647.hp2
HG02717.hp1
 intron_variant MODIFIER c.914-8977T>C
c.914-8977T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76276185
chr5:76276207 T
T
 G
G
 55 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
others(52): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 55 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(52): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19030.hp2
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-8955T>G
c.914-8955T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76276207
chr5:76276227 G
G
 A
A
 1 a0001c0001t0001g0057
a0001c0001t0001g0057
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.914-8935G>A
c.914-8935G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76276227
chr5:76276548 G
G
 A
A
 1 a0001c0001t0117g0012
a0001c0001t0117g0012
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.914-8614G>A
c.914-8614G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76276548
chr5:76276604 AG
AG
 A
A
 28 a0001c0001t0032g0160
a0001c0002t0013g0082
a0003c0004t0005g0161
others(25): Show 
a0001c0001t0032g0160
a0001c0002t0013g0082
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 28 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(25): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02895.hp2
HG03130.hp1
HG03130.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-8556delG
c.914-8556delG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76276604
chr5:76276638 C
C
 CT
CT
 37 a0001c0001t0002g0024
a0001c0001t0002g0224
a0001c0001t0032g0160
others(34): Show 
a0001c0001t0002g0024
a0001c0001t0002g0224
a0001c0001t0032g0160
a0001c0001t0068g0092
a0001c0001t0074g0208
a0001c0001t0133g0157
a0001c0002t0009g0186
a0001c0002t0013g0082
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 37 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(34): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG03130.hp2
HG03209.hp1
HG03540.hp1
HG04204.hp1
NA18522.hp2
NA18906.hp1
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-8508dupT
c.914-8508dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76276638
chr5:76276741 C
C
 CT
CT
 55 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
others(52): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 55 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(52): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19030.hp2
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-8411dupT
c.914-8411dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76276741
chr5:76276857 A
A
 G
G
 1 a0001c0002t0149g0019
a0001c0002t0149g0019
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.914-8305A>G
c.914-8305A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76276857
chr5:76277118 C
C
 T
T
 55 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
others(52): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 55 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(52): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19030.hp2
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-8044C>T
c.914-8044C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76277118
chr5:76277131 G
G
 A
A
 55 a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
others(52): Show 
a0001c0001t0002g0094
a0001c0001t0025g0231
a0001c0001t0032g0160
a0001c0001t0046g0050
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 55 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(52): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19030.hp2
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-8031G>A
c.914-8031G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76277131
chr5:76277173 G
G
 A
A
 2 a0001c0001t0075g0115
a0001c0002t0097g0114
a0001c0001t0075g0115
a0001c0002t0097g0114
 2 NA19068.hp2
NA19081.hp1
NA19068.hp2
NA19081.hp1
 intron_variant MODIFIER c.914-7989G>A
c.914-7989G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76277173
chr5:76277203 AAGCTAAA
others(4): Show 
AAGCTAAACATG
 A
A
 2 a0001c0002t0108g0120
a0001c0002t0144g0155
a0001c0002t0108g0120
a0001c0002t0144g0155
 2 HG02602.hp2
HG02698.hp2
HG02602.hp2
HG02698.hp2
 intron_variant MODIFIER c.914-7954_914-7944d
others(13): Show 
c.914-7954_914-7944delAAACATGAGCT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76277203
chr5:76277395 C
C
 T
T
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.914-7767C>T
c.914-7767C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76277395
chr5:76277422 A
A
 G
G
 1 a0006c0012t0035g0153
a0006c0012t0035g0153
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.914-7740A>G
c.914-7740A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76277422
chr5:76277509 C
C
 T
T
 3 a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0147g0195
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0147g0195
 3 HG01496.hp1
HG02970.hp2
HG03209.hp1
HG01496.hp1
HG02970.hp2
HG03209.hp1
 intron_variant MODIFIER c.914-7653C>T
c.914-7653C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76277509
chr5:76277569 T
T
 C
C
 4 a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
others(1): Show 
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 4 HG02055.hp1
HG02451.hp1
HG02559.hp2
others(1): Show 
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02922.hp2
 intron_variant MODIFIER c.914-7593T>C
c.914-7593T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76277569
chr5:76277725 G
G
 T
T
 39 a0001c0001t0032g0160
a0001c0002t0009g0186
a0002c0003t0017g0030
others(36): Show 
a0001c0001t0032g0160
a0001c0002t0009g0186
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 39 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(36): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-7437G>T
c.914-7437G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76277725
chr5:76277741 T
T
 G
G
 41 a0001c0001t0032g0160
a0001c0002t0009g0186
a0002c0003t0013g0226
others(38): Show 
a0001c0001t0032g0160
a0001c0002t0009g0186
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 41 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(38): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-7421T>G
c.914-7421T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76277741
chr5:76277755 C
C
 CAA
CAA
 38 a0001c0001t0032g0160
a0001c0002t0009g0186
a0002c0003t0013g0226
others(35): Show 
a0001c0001t0032g0160
a0001c0002t0009g0186
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 38 HG00280.hp1
HG00642.hp1
HG00741.hp1
others(35): Show 
HG00280.hp1
HG00642.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-7394_914-7393d
others(4): Show 
c.914-7394_914-7393dupAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76277755
chr5:76277864 G
G
 A
A
 5 a0002c0003t0017g0030
a0002c0008t0002g0216
a0002c0008t0002g0218
others(2): Show 
a0002c0003t0017g0030
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 5 HG02055.hp1
HG02451.hp1
HG02559.hp2
others(2): Show 
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02922.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-7298G>A
c.914-7298G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76277864
chr5:76277939 G
G
 C
C
 7 a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
others(4): Show 
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
a0003c0004t0139g0016
 7 HG01884.hp1
HG01891.hp1
HG02895.hp2
others(4): Show 
HG01884.hp1
HG01891.hp1
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.914-7223G>C
c.914-7223G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76277939
chr5:76278088 A
A
 T
T
 8 a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0122
others(5): Show 
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0122
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
 8 HG02486.hp1
HG02486.hp2
HG02895.hp1
others(5): Show 
HG02486.hp1
HG02486.hp2
HG02895.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.914-7074A>T
c.914-7074A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76278088
chr5:76278170 T
T
 TTG
TTG
 27 a0001c0001t0032g0160
a0003c0004t0005g0161
a0003c0004t0012g0222
others(24): Show 
a0001c0001t0032g0160
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 27 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(24): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18966.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-6974_914-6973d
others(4): Show 
c.914-6974_914-6973dupGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76278170
chr5:76278178 G
G
 A
A
 1 a0001c0001t0056g0069
a0001c0001t0056g0069
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.914-6984G>A
c.914-6984G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76278178
chr5:76278370 G
G
 A
A
 2 a0001c0001t0074g0208
a0001c0001t0122g0011
a0001c0001t0074g0208
a0001c0001t0122g0011
 2 HG03041.hp1
HG03540.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.914-6792G>A
c.914-6792G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76278370
chr5:76278617 G
G
 C
C
 2 a0002c0003t0049g0025
a0002c0003t0086g0088
a0002c0003t0049g0025
a0002c0003t0086g0088
 2 HG02647.hp2
HG02717.hp1
HG02647.hp2
HG02717.hp1
 intron_variant MODIFIER c.914-6545G>C
c.914-6545G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76278617
chr5:76278672 A
A
 G
G
 2 a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0003t0080g0084
a0002c0003t0129g0188
 2 HG01243.hp2
HG03209.hp2
HG01243.hp2
HG03209.hp2
 intron_variant MODIFIER c.914-6490A>G
c.914-6490A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76278672
chr5:76278731 G
G
 A
A
 1 a0001c0001t0128g0006
a0001c0001t0128g0006
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.914-6431G>A
c.914-6431G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76278731
chr5:76279030 A
A
 G
G
 44 a0001c0001t0040g0070
a0001c0001t0068g0092
a0001c0001t0133g0157
others(41): Show 
a0001c0001t0040g0070
a0001c0001t0068g0092
a0001c0001t0133g0157
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 44 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(41): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG04204.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-6132A>G
c.914-6132A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76279030
chr5:76279311 A
A
 T
T
 4 a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
others(1): Show 
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 4 HG02055.hp1
HG02451.hp1
HG02559.hp2
others(1): Show 
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02922.hp2
 intron_variant MODIFIER c.914-5851A>T
c.914-5851A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76279311
chr5:76279477 C
C
 T
T
 2 a0001c0001t0002g0024
a0001c0001t0002g0224
a0001c0001t0002g0024
a0001c0001t0002g0224
 2 HG02559.hp1
NA18906.hp1
HG02559.hp1
NA18906.hp1
 intron_variant MODIFIER c.914-5685C>T
c.914-5685C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76279477
chr5:76279618 G
G
 A
A
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.914-5544G>A
c.914-5544G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76279618
chr5:76279636 A
A
 G
G
 13 a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
others(10): Show 
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 13 HG01243.hp2
HG01496.hp1
HG02055.hp1
others(10): Show 
HG01243.hp2
HG01496.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03209.hp1
HG03209.hp2
 intron_variant MODIFIER c.914-5526A>G
c.914-5526A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76279636
chr5:76279695 C
C
 A
A
 13 a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
others(10): Show 
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 13 HG01243.hp2
HG01496.hp1
HG02055.hp1
others(10): Show 
HG01243.hp2
HG01496.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03209.hp1
HG03209.hp2
 intron_variant MODIFIER c.914-5467C>A
c.914-5467C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76279695
chr5:76279853 G
G
 C
C
 1 a0001c0001t0141g0013
a0001c0001t0141g0013
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.914-5309G>C
c.914-5309G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76279853
chr5:76280163 T
T
 C
C
 13 a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
others(10): Show 
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 13 HG01243.hp2
HG01496.hp1
HG02055.hp1
others(10): Show 
HG01243.hp2
HG01496.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03209.hp1
HG03209.hp2
 intron_variant MODIFIER c.914-4999T>C
c.914-4999T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76280163
chr5:76280180 T
T
 G
G
 4 a0001c0001t0065g0233
a0001c0001t0117g0012
a0001c0001t0118g0018
others(1): Show 
a0001c0001t0065g0233
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0002t0093g0205
 4 HG02258.hp2
HG02886.hp2
HG03486.hp1
others(1): Show 
HG02258.hp2
HG02886.hp2
HG03486.hp1
NA19043.hp1
 intron_variant MODIFIER c.914-4982T>G
c.914-4982T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76280180
chr5:76280219 C
C
 G
G
 1 a0001c0001t0131g0181
a0001c0001t0131g0181
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.914-4943C>G
c.914-4943C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76280219
chr5:76280247 A
A
 ATG
ATG
 13 a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
others(10): Show 
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 13 HG01243.hp2
HG01496.hp1
HG02055.hp1
others(10): Show 
HG01243.hp2
HG01496.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03209.hp1
HG03209.hp2
 intron_variant MODIFIER c.914-4907_914-4906d
others(4): Show 
c.914-4907_914-4906dupGT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 INFO_REALIGN_3_PRIME chr5 76280247
chr5:76280257 T
T
 G
G
 13 a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
others(10): Show 
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 13 HG01243.hp2
HG01496.hp1
HG02055.hp1
others(10): Show 
HG01243.hp2
HG01496.hp1
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp1
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03209.hp1
HG03209.hp2
 intron_variant MODIFIER c.914-4905T>G
c.914-4905T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76280257
chr5:76280488 C
C
 T
T
 44 a0001c0001t0040g0070
a0001c0001t0068g0092
a0001c0001t0133g0157
others(41): Show 
a0001c0001t0040g0070
a0001c0001t0068g0092
a0001c0001t0133g0157
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 44 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(41): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG04204.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-4674C>T
c.914-4674C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76280488
chr5:76280630 G
G
 C
C
 44 a0001c0001t0040g0070
a0001c0001t0068g0092
a0001c0001t0133g0157
others(41): Show 
a0001c0001t0040g0070
a0001c0001t0068g0092
a0001c0001t0133g0157
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 44 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(41): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG04204.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-4532G>C
c.914-4532G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76280630
chr5:76280688 C
C
 T
T
 2 a0001c0001t0033g0003
a0001c0001t0157g0029
a0001c0001t0033g0003
a0001c0001t0157g0029
 2 HG00423.hp1
NA19060.hp2
HG00423.hp1
NA19060.hp2
 intron_variant MODIFIER c.914-4474C>T
c.914-4474C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76280688
chr5:76280697 C
C
 T
T
 33 a0001c0001t0040g0070
a0002c0003t0013g0226
a0002c0003t0071g0228
others(30): Show 
a0001c0001t0040g0070
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 33 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(30): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02572.hp1
HG02630.hp1
HG02895.hp2
HG02896.hp1
HG02970.hp2
HG03130.hp1
HG03209.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-4465C>T
c.914-4465C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76280697
chr5:76280877 C
C
 T
T
 1 a0001c0001t0043g0028
a0001c0001t0043g0028
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.914-4285C>T
c.914-4285C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76280877
chr5:76280891 A
A
 G
G
 26 a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
others(23): Show 
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 26 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(23): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-4271A>G
c.914-4271A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76280891
chr5:76280904 T
T
 C
C
 43 a0001c0001t0040g0070
a0001c0001t0068g0092
a0002c0003t0013g0226
others(40): Show 
a0001c0001t0040g0070
a0001c0001t0068g0092
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 43 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(40): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-4258T>C
c.914-4258T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76280904
chr5:76281049 C
C
 T
T
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.914-4113C>T
c.914-4113C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76281049
chr5:76281291 C
C
 G
G
 6 a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0012g0223
others(3): Show 
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0012g0223
a0001c0001t0070g0227
a0001c0002t0100g0206
a0001c0007t0007g0078
 6 HG00733.hp1
HG01109.hp1
HG02647.hp1
others(3): Show 
HG00733.hp1
HG01109.hp1
HG02647.hp1
HG02723.hp1
HG03041.hp2
HG03225.hp2
 intron_variant MODIFIER c.914-3871C>G
c.914-3871C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76281291
chr5:76281318 C
C
 T
T
 26 a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
others(23): Show 
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 26 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(23): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-3844C>T
c.914-3844C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76281318
chr5:76281351 T
T
 A
A
 1 a0001c0001t0003g0098
a0001c0001t0003g0098
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.914-3811T>A
c.914-3811T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76281351
chr5:76281472 C
C
 A
A
 10 a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
others(7): Show 
a0001c0001t0008g0104
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0011g0065
a0001c0001t0121g0097
a0001c0001t0126g0172
a0001c0002t0029g0141
a0001c0002t0096g0112
a0001c0002t0111g0133
a0001c0002t0150g0191
 10 HG01168.hp1
HG01255.hp1
HG01256.hp2
others(7): Show 
HG01168.hp1
HG01255.hp1
HG01256.hp2
HG02083.hp2
HG02738.hp1
HG03834.hp1
NA18954.hp1
NA19060.hp1
NA19083.hp1
NA19088.hp2
 intron_variant MODIFIER c.914-3690C>A
c.914-3690C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76281472
chr5:76281668 T
T
 G
G
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.914-3494T>G
c.914-3494T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76281668
chr5:76281738 T
T
 C
C
 42 a0001c0001t0040g0070
a0002c0003t0013g0226
a0002c0003t0017g0030
others(39): Show 
a0001c0001t0040g0070
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 42 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(39): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-3424T>C
c.914-3424T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76281738
chr5:76281852 T
T
 G
G
 1 a0002c0003t0021g0103
a0002c0003t0021g0103
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.914-3310T>G
c.914-3310T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76281852
chr5:76281891 A
A
 G
G
 42 a0001c0001t0040g0070
a0002c0003t0013g0226
a0002c0003t0017g0030
others(39): Show 
a0001c0001t0040g0070
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 42 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(39): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-3271A>G
c.914-3271A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76281891
chr5:76281994 A
A
 G
G
 39 a0001c0001t0040g0070
a0002c0003t0013g0226
a0002c0003t0049g0025
others(36): Show 
a0001c0001t0040g0070
a0002c0003t0013g0226
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 39 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(36): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-3168A>G
c.914-3168A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76281994
chr5:76282274 A
A
 G
G
 1 a0001c0001t0001g0058
a0001c0001t0001g0058
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.914-2888A>G
c.914-2888A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76282274
chr5:76282740 T
T
 C
C
 1 a0002c0006t0034g0168
a0002c0006t0034g0168
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.914-2422T>C
c.914-2422T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76282740
chr5:76282767 T
T
 A
A
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.914-2395T>A
c.914-2395T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76282767
chr5:76282990 C
C
 T
T
 1 a0001c0001t0018g0044
a0001c0001t0018g0044
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.914-2172C>T
c.914-2172C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76282990
chr5:76283181 T
T
 C
C
 42 a0001c0001t0040g0070
a0002c0003t0013g0226
a0002c0003t0017g0030
others(39): Show 
a0001c0001t0040g0070
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 42 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(39): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-1981T>C
c.914-1981T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76283181
chr5:76283205 C
C
 T
T
 1 a0001c0001t0128g0006
a0001c0001t0128g0006
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.914-1957C>T
c.914-1957C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76283205
chr5:76283295 G
G
 A
A
 1 a0002c0003t0013g0226
a0002c0003t0013g0226
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.914-1867G>A
c.914-1867G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76283295
chr5:76283327 C
C
 A
A
 29 a0001c0001t0040g0070
a0003c0004t0005g0161
a0003c0004t0009g0017
others(26): Show 
a0001c0001t0040g0070
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 29 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(26): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02572.hp1
HG02630.hp1
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-1835C>A
c.914-1835C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76283327
chr5:76283403 G
G
 T
T
 2 a0001c0001t0070g0227
a0001c0007t0007g0078
a0001c0001t0070g0227
a0001c0007t0007g0078
 2 HG01109.hp1
HG03225.hp2
HG01109.hp1
HG03225.hp2
 intron_variant MODIFIER c.914-1759G>T
c.914-1759G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76283403
chr5:76283412 T
T
 A
A
 29 a0001c0001t0040g0070
a0003c0004t0005g0161
a0003c0004t0009g0017
others(26): Show 
a0001c0001t0040g0070
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 29 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(26): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02572.hp1
HG02630.hp1
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-1750T>A
c.914-1750T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76283412
chr5:76283412 T
T
 G
G
 4 a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
others(1): Show 
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 4 HG02055.hp1
HG02451.hp1
HG02559.hp2
others(1): Show 
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02922.hp2
 intron_variant MODIFIER c.914-1750T>G
c.914-1750T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76283412
chr5:76283693 A
A
 G
G
 41 a0001c0001t0040g0070
a0002c0003t0017g0030
a0002c0003t0049g0025
others(38): Show 
a0001c0001t0040g0070
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 41 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(38): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-1469A>G
c.914-1469A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76283693
chr5:76283875 C
C
 A
A
 1 a0001c0001t0007g0122
a0001c0001t0007g0122
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.914-1287C>A
c.914-1287C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76283875
chr5:76283879 A
A
 G
G
 3 a0001c0001t0040g0070
a0003c0004t0009g0017
a0003c0004t0026g0147
a0001c0001t0040g0070
a0003c0004t0009g0017
a0003c0004t0026g0147
 3 HG02572.hp1
HG02630.hp1
NA20129.hp2
HG02572.hp1
HG02630.hp1
NA20129.hp2
 intron_variant MODIFIER c.914-1283A>G
c.914-1283A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76283879
chr5:76283893 G
G
 T
T
 3 a0001c0001t0012g0083
a0001c0015t0079g0087
a0005c0011t0143g0015
a0001c0001t0012g0083
a0001c0015t0079g0087
a0005c0011t0143g0015
 3 HG02280.hp2
HG02615.hp2
HG03225.hp1
HG02280.hp2
HG02615.hp2
HG03225.hp1
 intron_variant MODIFIER c.914-1269G>T
c.914-1269G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76283893
chr5:76283937 G
G
 A
A
 41 a0001c0001t0040g0070
a0002c0003t0017g0030
a0002c0003t0049g0025
others(38): Show 
a0001c0001t0040g0070
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 41 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(38): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-1225G>A
c.914-1225G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76283937
chr5:76284121 T
T
 C
C
 26 a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
others(23): Show 
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 26 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(23): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-1041T>C
c.914-1041T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76284121
chr5:76284137 G
G
 T
T
 2 a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0017g0030
a0002c0003t0049g0025
 2 HG02647.hp2
HG02976.hp2
HG02647.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-1025G>T
c.914-1025G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76284137
chr5:76284464 C
C
 T
T
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.914-698C>T
c.914-698C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76284464
chr5:76284465 G
G
 A
A
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.914-697G>A
c.914-697G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76284465
chr5:76284541 G
G
 A
A
 6 a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
others(3): Show 
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
 6 HG01243.hp2
HG01496.hp1
HG02717.hp1
others(3): Show 
HG01243.hp2
HG01496.hp1
HG02717.hp1
HG02970.hp2
HG03209.hp1
HG03209.hp2
 intron_variant MODIFIER c.914-621G>A
c.914-621G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76284541
chr5:76284584 C
C
 A
A
 26 a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
others(23): Show 
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 26 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(23): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-578C>A
c.914-578C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76284584
chr5:76284591 T
T
 G
G
 39 a0001c0001t0040g0070
a0002c0003t0017g0030
a0002c0003t0049g0025
others(36): Show 
a0001c0001t0040g0070
a0002c0003t0017g0030
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 39 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(36): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02055.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp1
HG03209.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-571T>G
c.914-571T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76284591
chr5:76284629 C
C
 T
T
 3 a0001c0001t0040g0070
a0003c0004t0009g0017
a0003c0004t0026g0147
a0001c0001t0040g0070
a0003c0004t0009g0017
a0003c0004t0026g0147
 3 HG02572.hp1
HG02630.hp1
NA20129.hp2
HG02572.hp1
HG02630.hp1
NA20129.hp2
 intron_variant MODIFIER c.914-533C>T
c.914-533C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76284629
chr5:76284862 A
A
 G
G
 29 a0001c0001t0040g0070
a0003c0004t0005g0161
a0003c0004t0009g0017
others(26): Show 
a0001c0001t0040g0070
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 29 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(26): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02572.hp1
HG02630.hp1
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.914-300A>G
c.914-300A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 4/12 chr5 76284862
chr5:76285460 A
A
 G
G
 1 a0003c0004t0066g0086
a0003c0004t0066g0086
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.1047+165A>G
c.1047+165A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 5/12 chr5 76285460
chr5:76285557 G
G
 A
A
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1048-224G>A
c.1048-224G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 5/12 chr5 76285557
chr5:76286137 G
G
 A
A
 2 a0001c0009t0031g0184
a0001c0009t0134g0182
a0001c0009t0031g0184
a0001c0009t0134g0182
 2 HG01361.hp2
HG01928.hp2
HG01361.hp2
HG01928.hp2
 intron_variant MODIFIER c.1137+267G>A
c.1137+267G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76286137
chr5:76286202 C
C
 G
G
 1 a0001c0002t0102g0234
a0001c0002t0102g0234
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1137+332C>G
c.1137+332C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76286202
chr5:76286542 C
C
 A
A
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1137+672C>A
c.1137+672C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76286542
chr5:76286642 T
T
 C
C
 4 a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
others(1): Show 
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 4 HG02055.hp1
HG02451.hp1
HG02559.hp2
others(1): Show 
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02922.hp2
 intron_variant MODIFIER c.1137+772T>C
c.1137+772T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76286642
chr5:76286718 G
G
 A
A
 1 a0001c0002t0100g0206
a0001c0002t0100g0206
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1137+848G>A
c.1137+848G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76286718
chr5:76286875 C
C
 G
G
 58 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(55): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0070g0227
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0151g0151
a0001c0007t0007g0078
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
 58 HG00140.hp1
HG00280.hp2
HG00423.hp1
others(55): Show 
HG00140.hp1
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG03041.hp2
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18966.hp2
NA18968.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1137+1005C>G
c.1137+1005C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76286875
chr5:76287002 A
A
 C
C
 1 a0002c0003t0080g0084
a0002c0003t0080g0084
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1137+1132A>C
c.1137+1132A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76287002
chr5:76287068 C
C
 T
T
 8 a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0013g0085
others(5): Show 
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0013g0082
a0001c0002t0106g0210
a0001c0002t0107g0207
 8 HG02257.hp2
HG02630.hp2
HG02809.hp2
others(5): Show 
HG02257.hp2
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.1137+1198C>T
c.1137+1198C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76287068
chr5:76287178 T
T
 C
C
 4 a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
others(1): Show 
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0147g0195
 4 HG01496.hp1
HG02896.hp1
HG02970.hp2
others(1): Show 
HG01496.hp1
HG02896.hp1
HG02970.hp2
HG03209.hp1
 intron_variant MODIFIER c.1137+1308T>C
c.1137+1308T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76287178
chr5:76287578 A
A
 G
G
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1137+1708A>G
c.1137+1708A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76287578
chr5:76287961 T
T
 C
C
 1 a0002c0003t0080g0084
a0002c0003t0080g0084
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1137+2091T>C
c.1137+2091T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76287961
chr5:76287963 T
T
 G
G
 1 a0001c0001t0003g0098
a0001c0001t0003g0098
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.1137+2093T>G
c.1137+2093T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76287963
chr5:76288083 C
C
 CA
CA
 22 a0001c0001t0130g0010
a0001c0002t0006g0196
a0002c0003t0013g0226
others(19): Show 
a0001c0001t0130g0010
a0001c0002t0006g0196
a0002c0003t0013g0226
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0004t0026g0147
 22 HG00558.hp1
HG01433.hp1
HG02015.hp2
others(19): Show 
HG00558.hp1
HG01433.hp1
HG02015.hp2
HG02080.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02717.hp1
HG02738.hp2
HG02896.hp1
HG02976.hp1
HG03209.hp1
HG03471.hp2
NA18522.hp1
NA18955.hp1
NA18968.hp2
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19079.hp1
NA19084.hp2
NA21309.hp1
 intron_variant MODIFIER c.1137+2232dupA
c.1137+2232dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 INFO_REALIGN_3_PRIME chr5 76288083
chr5:76288083 CA
CA
 C
C
 29 a0001c0002t0020g0042
a0001c0002t0060g0052
a0002c0008t0007g0225
others(26): Show 
a0001c0002t0020g0042
a0001c0002t0060g0052
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 29 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(26): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02451.hp1
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19072.hp2
NA19081.hp2
NA19084.hp1
NA19091.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1137+2232delA
c.1137+2232delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 INFO_REALIGN_3_PRIME chr5 76288083
chr5:76288598 A
A
 G
G
 29 a0001c0001t0040g0070
a0003c0004t0005g0161
a0003c0004t0009g0017
others(26): Show 
a0001c0001t0040g0070
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 29 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(26): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02572.hp1
HG02630.hp1
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1138-2623A>G
c.1138-2623A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76288598
chr5:76288690 G
G
 T
T
 18 a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
others(15): Show 
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
 18 HG00558.hp1
HG01433.hp1
HG02015.hp2
others(15): Show 
HG00558.hp1
HG01433.hp1
HG02015.hp2
HG02080.hp1
HG02615.hp1
HG02976.hp1
HG03471.hp2
NA18522.hp1
NA18955.hp1
NA18960.hp2
NA18968.hp2
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19011.hp1
NA19079.hp1
NA19084.hp2
NA21309.hp1
 intron_variant MODIFIER c.1138-2531G>T
c.1138-2531G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76288690
chr5:76288698 A
A
 G
G
 1 a0002c0003t0013g0226
a0002c0003t0013g0226
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.1138-2523A>G
c.1138-2523A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76288698
chr5:76288849 A
A
 C
C
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1138-2372A>C
c.1138-2372A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76288849
chr5:76289144 C
C
 T
T
 1 a0001c0002t0009g0186
a0001c0002t0009g0186
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.1138-2077C>T
c.1138-2077C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76289144
chr5:76289512 G
G
 C
C
 4 a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
others(1): Show 
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0147g0195
 4 HG01496.hp1
HG02896.hp1
HG02970.hp2
others(1): Show 
HG01496.hp1
HG02896.hp1
HG02970.hp2
HG03209.hp1
 intron_variant MODIFIER c.1138-1709G>C
c.1138-1709G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76289512
chr5:76289680 T
T
 G
G
 2 a0001c0001t0074g0208
a0001c0001t0122g0011
a0001c0001t0074g0208
a0001c0001t0122g0011
 2 HG03041.hp1
HG03540.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.1138-1541T>G
c.1138-1541T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76289680
chr5:76290015 C
C
 T
T
 1 a0001c0001t0042g0072
a0001c0001t0042g0072
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1138-1206C>T
c.1138-1206C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76290015
chr5:76290089 G
G
 GA
GA
 59 a0001c0001t0040g0070
a0002c0003t0001g0026
a0002c0003t0013g0226
others(56): Show 
a0001c0001t0040g0070
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 59 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(56): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02080.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1138-1123dupA
c.1138-1123dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 INFO_REALIGN_3_PRIME chr5 76290089
chr5:76290099 C
C
 A
A
 2 a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0033g0169
a0002c0003t0059g0043
 2 HG02015.hp2
NA18968.hp2
HG02015.hp2
NA18968.hp2
 intron_variant MODIFIER c.1138-1122C>A
c.1138-1122C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76290099
chr5:76290154 G
G
 A
A
 1 a0002c0003t0013g0226
a0002c0003t0013g0226
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.1138-1067G>A
c.1138-1067G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76290154
chr5:76290225 C
C
 T
T
 1 a0003c0004t0026g0147
a0003c0004t0026g0147
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1138-996C>T
c.1138-996C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76290225
chr5:76290360 G
G
 A
A
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.1138-861G>A
c.1138-861G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76290360
chr5:76290382 C
C
 T
T
 1 a0001c0001t0012g0223
a0001c0001t0012g0223
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.1138-839C>T
c.1138-839C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76290382
chr5:76290428 A
A
 G
G
 1 a0001c0001t0024g0203
a0001c0001t0024g0203
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1138-793A>G
c.1138-793A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76290428
chr5:76290529 T
T
 G
G
 4 a0001c0001t0065g0233
a0001c0001t0117g0012
a0001c0001t0118g0018
others(1): Show 
a0001c0001t0065g0233
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0002t0093g0205
 4 HG02258.hp2
HG02886.hp2
HG03486.hp1
others(1): Show 
HG02258.hp2
HG02886.hp2
HG03486.hp1
NA19043.hp1
 intron_variant MODIFIER c.1138-692T>G
c.1138-692T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76290529
chr5:76290549 T
T
 A
A
 1 a0001c0001t0023g0131
a0001c0001t0023g0131
 1 NA19079.hp2
NA19079.hp2
 intron_variant MODIFIER c.1138-672T>A
c.1138-672T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76290549
chr5:76290636 A
A
 G
G
 1 a0001c0002t0036g0014
a0001c0002t0036g0014
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1138-585A>G
c.1138-585A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76290636
chr5:76290691 C
C
 T
T
 5 a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0087g0021
others(2): Show 
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0006t0095g0091
 5 HG02615.hp1
HG02976.hp1
HG03471.hp2
others(2): Show 
HG02615.hp1
HG02976.hp1
HG03471.hp2
NA18522.hp1
NA21309.hp1
 intron_variant MODIFIER c.1138-530C>T
c.1138-530C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76290691
chr5:76290752 C
C
 T
T
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1138-469C>T
c.1138-469C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76290752
chr5:76290780 G
G
 C
C
 2 a0001c0001t0043g0028
a0007c0014t0005g0180
a0001c0001t0043g0028
a0007c0014t0005g0180
 2 HG02735.hp2
HG03834.hp2
HG02735.hp2
HG03834.hp2
 intron_variant MODIFIER c.1138-441G>C
c.1138-441G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76290780
chr5:76291111 G
G
 A
A
 13 a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0133g0157
others(10): Show 
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0133g0157
a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0146g0175
a0006c0012t0035g0153
 13 HG00738.hp1
HG01106.hp2
HG01109.hp2
others(10): Show 
HG00738.hp1
HG01106.hp2
HG01109.hp2
HG01255.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG02257.hp1
HG02280.hp1
HG02738.hp2
HG04204.hp1
NA20805.hp1
 intron_variant MODIFIER c.1138-110G>A
c.1138-110G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 6/12 chr5 76291111
chr5:76291347 C
C
 T
T
 1 a0001c0001t0046g0050
a0001c0001t0046g0050
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1248+16C>T
c.1248+16C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 7/12 chr5 76291347
chr5:76291461 C
C
 G
G
 2 a0001c0001t0048g0047
a0001c0001t0135g0198
a0001c0001t0048g0047
a0001c0001t0135g0198
 2 HG00735.hp2
NA19030.hp1
HG00735.hp2
NA19030.hp1
 intron_variant MODIFIER c.1248+130C>G
c.1248+130C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 7/12 chr5 76291461
chr5:76291507 C
C
 T
T
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.1248+176C>T
c.1248+176C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 7/12 chr5 76291507
chr5:76291613 A
A
 C
C
 4 a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
others(1): Show 
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0147g0195
 4 HG01496.hp1
HG02896.hp1
HG02970.hp2
others(1): Show 
HG01496.hp1
HG02896.hp1
HG02970.hp2
HG03209.hp1
 intron_variant MODIFIER c.1249-155A>C
c.1249-155A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 7/12 chr5 76291613
chr5:76291895 A
A
 T
T
 2 a0001c0002t0006g0174
a0001c0002t0006g0177
a0001c0002t0006g0174
a0001c0002t0006g0177
 2 HG01261.hp1
HG02257.hp1
HG01261.hp1
HG02257.hp1
 intron_variant MODIFIER c.1337+39A>T
c.1337+39A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76291895
chr5:76292048 A
A
 G
G
 1 a0001c0002t0101g0144
a0001c0002t0101g0144
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1337+192A>G
c.1337+192A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76292048
chr5:76292271 C
C
 T
T
 1 a0001c0002t0097g0114
a0001c0002t0097g0114
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.1337+415C>T
c.1337+415C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76292271
chr5:76292682 T
T
 C
C
 5 a0002c0003t0086g0088
a0002c0008t0002g0216
a0002c0008t0002g0218
others(2): Show 
a0002c0003t0086g0088
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 5 HG02055.hp1
HG02451.hp1
HG02559.hp2
others(2): Show 
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02717.hp1
HG02922.hp2
 intron_variant MODIFIER c.1337+826T>C
c.1337+826T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76292682
chr5:76292975 T
T
 A
A
 1 a0001c0001t0008g0130
a0001c0001t0008g0130
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.1337+1119T>A
c.1337+1119T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76292975
chr5:76293164 AG
AG
 A
A
 2 a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0003t0080g0084
a0002c0003t0129g0188
 2 HG01243.hp2
HG03209.hp2
HG01243.hp2
HG03209.hp2
 intron_variant MODIFIER c.1337+1309delG
c.1337+1309delG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76293164
chr5:76293196 A
A
 C
C
 28 a0001c0001t0001g0059
a0001c0001t0005g0099
a0001c0001t0005g0162
others(25): Show 
a0001c0001t0001g0059
a0001c0001t0005g0099
a0001c0001t0005g0162
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0043g0028
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0090g0106
a0001c0001t0123g0002
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0060g0052
a0001c0002t0102g0234
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0007c0014t0005g0180
 28 HG00140.hp2
HG01256.hp1
HG01258.hp2
others(25): Show 
HG00140.hp2
HG01256.hp1
HG01258.hp2
HG01981.hp1
HG02056.hp1
HG02300.hp1
HG02602.hp1
HG02698.hp1
HG02735.hp2
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19011.hp2
NA19056.hp1
NA19063.hp2
NA19084.hp1
NA20905.hp1
 intron_variant MODIFIER c.1337+1340A>C
c.1337+1340A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76293196
chr5:76293463 C
C
 T
T
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1337+1607C>T
c.1337+1607C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76293463
chr5:76293464 G
G
 A
A
 1 a0001c0009t0134g0182
a0001c0009t0134g0182
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.1337+1608G>A
c.1337+1608G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76293464
chr5:76293903 G
G
 A
A
 5 a0001c0001t0004g0229
a0001c0002t0103g0148
a0001c0007t0004g0075
others(2): Show 
a0001c0001t0004g0229
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0078g0076
 5 HG02486.hp1
HG02895.hp1
HG03098.hp1
others(2): Show 
HG02486.hp1
HG02895.hp1
HG03098.hp1
HG03139.hp1
NA19043.hp2
 intron_variant MODIFIER c.1338-1875G>A
c.1338-1875G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76293903
chr5:76294273 T
T
 C
C
 5 a0001c0001t0065g0233
a0001c0001t0117g0012
a0001c0001t0118g0018
others(2): Show 
a0001c0001t0065g0233
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0128g0006
a0001c0002t0093g0205
 5 HG02258.hp2
HG02886.hp2
HG03098.hp2
others(2): Show 
HG02258.hp2
HG02886.hp2
HG03098.hp2
HG03486.hp1
NA19043.hp1
 intron_variant MODIFIER c.1338-1505T>C
c.1338-1505T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76294273
chr5:76294299 T
T
 TC
TC
 18 a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
others(15): Show 
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
 18 HG00558.hp1
HG01433.hp1
HG02015.hp2
others(15): Show 
HG00558.hp1
HG01433.hp1
HG02015.hp2
HG02080.hp1
HG02615.hp1
HG02976.hp1
HG03471.hp2
NA18522.hp1
NA18955.hp1
NA18960.hp2
NA18968.hp2
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19011.hp1
NA19079.hp1
NA19084.hp2
NA21309.hp1
 intron_variant MODIFIER c.1338-1478dupC
c.1338-1478dupC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 INFO_REALIGN_3_PRIME chr5 76294299
chr5:76294304 C
C
 CT
CT
 60 a0001c0001t0003g0171
a0001c0001t0007g0093
a0001c0001t0007g0122
others(57): Show 
a0001c0001t0003g0171
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0041g0036
a0001c0001t0043g0028
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0070g0227
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0002t0006g0156
a0001c0002t0025g0232
a0001c0002t0036g0176
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0108g0120
a0001c0002t0109g0209
a0001c0002t0144g0155
a0001c0002t0149g0019
a0001c0007t0007g0078
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 60 HG00280.hp1
HG00280.hp2
HG00733.hp1
others(57): Show 
HG00280.hp1
HG00280.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG02015.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp1
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG03041.hp2
HG03130.hp1
HG03225.hp2
HG03486.hp1
HG03540.hp2
HG04184.hp2
NA18522.hp2
NA18906.hp2
NA18955.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.1338-1456dupT
c.1338-1456dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 INFO_REALIGN_3_PRIME chr5 76294304
chr5:76294304 C
C
 CTT
CTT
 43 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(40): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0185
a0001c0001t0005g0100
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0157g0029
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0151g0151
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0003c0004t0045g0048
 43 HG00140.hp1
HG00423.hp1
HG00558.hp2
others(40): Show 
HG00140.hp1
HG00423.hp1
HG00558.hp2
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01361.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG04228.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1338-1457_1338-145
others(6): Show 
c.1338-1457_1338-1456dupTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 INFO_REALIGN_3_PRIME chr5 76294304
chr5:76294304 CT
CT
 C
C
 10 a0001c0001t0004g0080
a0001c0001t0056g0069
a0001c0007t0004g0079
others(7): Show 
a0001c0001t0004g0080
a0001c0001t0056g0069
a0001c0007t0004g0079
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0129g0188
a0002c0006t0147g0195
 10 HG01243.hp2
HG01496.hp1
HG02717.hp1
others(7): Show 
HG01243.hp2
HG01496.hp1
HG02717.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG03209.hp1
HG03209.hp2
NA19056.hp1
NA19240.hp2
 intron_variant MODIFIER c.1338-1456delT
c.1338-1456delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 INFO_REALIGN_3_PRIME chr5 76294304
chr5:76294305 T
T
 TC
TC
 19 a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
others(16): Show 
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0005t0030g0137
a0003c0005t0115g0139
 19 HG00558.hp1
HG00642.hp1
HG01433.hp1
others(16): Show 
HG00558.hp1
HG00642.hp1
HG01433.hp1
HG02015.hp2
HG02080.hp1
HG02615.hp1
HG02976.hp1
HG03471.hp2
NA18522.hp1
NA18955.hp1
NA18960.hp2
NA18968.hp2
NA18981.hp2
NA19005.hp2
NA19011.hp1
NA19079.hp1
NA19084.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1338-1473_1338-147
others(5): Show 
c.1338-1473_1338-1472insC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76294305
chr5:76294306 T
T
 C
C
 1 a0002c0006t0062g0068
a0002c0006t0062g0068
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.1338-1472T>C
c.1338-1472T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76294306
chr5:76294355 G
G
 A
A
 1 a0001c0001t0073g0089
a0001c0001t0073g0089
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1338-1423G>A
c.1338-1423G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76294355
chr5:76294388 G
G
 A
A
 2 a0001c0001t0002g0024
a0001c0001t0002g0224
a0001c0001t0002g0024
a0001c0001t0002g0224
 2 HG02559.hp1
NA18906.hp1
HG02559.hp1
NA18906.hp1
 intron_variant MODIFIER c.1338-1390G>A
c.1338-1390G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76294388
chr5:76294447 G
G
 A
A
 1 a0001c0002t0102g0234
a0001c0002t0102g0234
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.1338-1331G>A
c.1338-1331G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76294447
chr5:76294458 T
T
 C
C
 59 a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
others(56): Show 
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 59 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(56): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02080.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1338-1320T>C
c.1338-1320T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76294458
chr5:76294463 G
G
 A
A
 4 a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
others(1): Show 
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0147g0195
 4 HG01496.hp1
HG02896.hp1
HG02970.hp2
others(1): Show 
HG01496.hp1
HG02896.hp1
HG02970.hp2
HG03209.hp1
 intron_variant MODIFIER c.1338-1315G>A
c.1338-1315G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76294463
chr5:76294611 T
T
 C
C
 1 a0001c0001t0136g0095
a0001c0001t0136g0095
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.1338-1167T>C
c.1338-1167T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76294611
chr5:76294655 A
A
 G
G
 1 a0002c0003t0013g0226
a0002c0003t0013g0226
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.1338-1123A>G
c.1338-1123A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76294655
chr5:76294852 C
C
 T
T
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1338-926C>T
c.1338-926C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76294852
chr5:76294980 C
C
 G
G
 71 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(68): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0070g0227
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0005c0011t0143g0015
 71 HG00140.hp1
HG00280.hp2
HG00423.hp1
others(68): Show 
HG00140.hp1
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp2
NA18955.hp2
NA18966.hp2
NA18968.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19043.hp2
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1338-798C>G
c.1338-798C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76294980
chr5:76295003 G
G
 A
A
 2 a0001c0002t0006g0192
a0001c0002t0037g0194
a0001c0002t0006g0192
a0001c0002t0037g0194
 2 HG00738.hp1
HG01515.hp2
HG00738.hp1
HG01515.hp2
 intron_variant MODIFIER c.1338-775G>A
c.1338-775G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76295003
chr5:76295251 C
C
 T
T
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1338-527C>T
c.1338-527C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76295251
chr5:76295499 G
G
 A
A
 26 a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
others(23): Show 
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 26 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(23): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1338-279G>A
c.1338-279G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76295499
chr5:76295568 G
G
 C
C
 1 a0001c0001t0011g0065
a0001c0001t0011g0065
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.1338-210G>C
c.1338-210G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76295568
chr5:76295684 C
C
 T
T
 1 a0001c0001t0128g0006
a0001c0001t0128g0006
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.1338-94C>T
c.1338-94C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76295684
chr5:76295697 C
C
 T
T
 1 a0001c0002t0106g0210
a0001c0002t0106g0210
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1338-81C>T
c.1338-81C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76295697
chr5:76295758 A
A
 T
T
 1 a0001c0001t0017g0034
a0001c0001t0017g0034
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.1338-20A>T
c.1338-20A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 8/12 chr5 76295758
chr5:76296161 G
G
 C
C
 46 a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
others(43): Show 
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 46 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(43): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02080.hp1
HG02145.hp2
HG02572.hp1
HG02615.hp1
HG02895.hp2
HG02976.hp1
HG03130.hp1
HG03471.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1502+219G>C
c.1502+219G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/12 chr5 76296161
chr5:76296733 C
C
 T
T
 2 a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0009g0017
a0003c0004t0026g0147
 2 HG02572.hp1
NA20129.hp2
HG02572.hp1
NA20129.hp2
 intron_variant MODIFIER c.1502+791C>T
c.1502+791C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/12 chr5 76296733
chr5:76296965 AACTG
AACTG
 A
A
 18 a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
others(15): Show 
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
 18 HG00558.hp1
HG01433.hp1
HG02015.hp2
others(15): Show 
HG00558.hp1
HG01433.hp1
HG02015.hp2
HG02080.hp1
HG02615.hp1
HG02976.hp1
HG03471.hp2
NA18522.hp1
NA18955.hp1
NA18960.hp2
NA18968.hp2
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19011.hp1
NA19079.hp1
NA19084.hp2
NA21309.hp1
 intron_variant MODIFIER c.1502+1027_1502+103
others(8): Show 
c.1502+1027_1502+1030delGACT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/12 INFO_REALIGN_3_PRIME chr5 76296965
chr5:76296967 C
C
 A
A
 2 a0002c0003t0017g0030
a0002c0003t0086g0088
a0002c0003t0017g0030
a0002c0003t0086g0088
 2 HG02717.hp1
HG02976.hp2
HG02717.hp1
HG02976.hp2
 intron_variant MODIFIER c.1502+1025C>A
c.1502+1025C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/12 chr5 76296967
chr5:76297218 C
C
 A
A
 2 a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0009g0017
a0003c0004t0026g0147
 2 HG02572.hp1
NA20129.hp2
HG02572.hp1
NA20129.hp2
 intron_variant MODIFIER c.1502+1276C>A
c.1502+1276C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/12 chr5 76297218
chr5:76297517 A
A
 G
G
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1503-1277A>G
c.1503-1277A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/12 chr5 76297517
chr5:76297886 G
G
 A
A
 1 a0001c0002t0029g0141
a0001c0002t0029g0141
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1503-908G>A
c.1503-908G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/12 chr5 76297886
chr5:76297956 G
G
 A
A
 2 a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0009g0017
a0003c0004t0026g0147
 2 HG02572.hp1
NA20129.hp2
HG02572.hp1
NA20129.hp2
 intron_variant MODIFIER c.1503-838G>A
c.1503-838G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/12 chr5 76297956
chr5:76298371 T
T
 C
C
 1 a0001c0007t0007g0078
a0001c0007t0007g0078
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1503-423T>C
c.1503-423T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/12 chr5 76298371
chr5:76298464 C
C
 G
G
 1 a0003c0004t0026g0147
a0003c0004t0026g0147
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1503-330C>G
c.1503-330C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/12 chr5 76298464
chr5:76298535 A
A
 G
G
 58 a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
others(55): Show 
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 58 HG00280.hp1
HG00558.hp1
HG00642.hp1
others(55): Show 
HG00280.hp1
HG00558.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02080.hp1
HG02145.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18955.hp1
NA18960.hp1
NA18960.hp2
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1503-259A>G
c.1503-259A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/12 chr5 76298535
chr5:76298632 A
A
 T
T
 76 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(73): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0065g0233
a0001c0001t0070g0227
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0128g0006
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0005c0011t0143g0015
 76 HG00140.hp1
HG00280.hp2
HG00423.hp1
others(73): Show 
HG00140.hp1
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02886.hp2
HG02895.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG04184.hp2
HG04228.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp2
NA18955.hp2
NA18966.hp2
NA18968.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1503-162A>T
c.1503-162A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/12 chr5 76298632
chr5:76298672 G
G
 T
T
 2 a0002c0003t0085g0215
a0002c0006t0147g0195
a0002c0003t0085g0215
a0002c0006t0147g0195
 2 HG01496.hp1
HG03209.hp1
HG01496.hp1
HG03209.hp1
 intron_variant MODIFIER c.1503-122G>T
c.1503-122G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/12 chr5 76298672
chr5:76298713 T
T
 A
A
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1503-81T>A
c.1503-81T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 9/12 chr5 76298713
chr5:76298940 C
C
 G
G
 1 a0001c0001t0073g0089
a0001c0001t0073g0089
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1636+13C>G
c.1636+13C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 chr5 76298940
chr5:76298956 C
C
 T
T
 4 a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
others(1): Show 
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
 4 HG02055.hp1
HG02451.hp1
HG02559.hp2
others(1): Show 
HG02055.hp1
HG02451.hp1
HG02559.hp2
HG02922.hp2
 intron_variant MODIFIER c.1636+29C>T
c.1636+29C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 chr5 76298956
chr5:76299391 T
T
 A
A
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1636+464T>A
c.1636+464T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 chr5 76299391
chr5:76299392 G
G
 A
A
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1636+465G>A
c.1636+465G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 chr5 76299392
chr5:76299395 C
C
 A
A
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1636+468C>A
c.1636+468C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 chr5 76299395
chr5:76299472 G
G
 A
A
 1 a0001c0001t0055g0064
a0001c0001t0055g0064
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.1636+545G>A
c.1636+545G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 chr5 76299472
chr5:76299526 C
C
 G
G
 3 a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0006t0061g0049
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0006t0061g0049
 3 HG02015.hp2
HG02080.hp1
NA18968.hp2
HG02015.hp2
HG02080.hp1
NA18968.hp2
 intron_variant MODIFIER c.1636+599C>G
c.1636+599C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 chr5 76299526
chr5:76299573 C
C
 A
A
 2 a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0009g0017
a0003c0004t0026g0147
 2 HG02572.hp1
NA20129.hp2
HG02572.hp1
NA20129.hp2
 intron_variant MODIFIER c.1636+646C>A
c.1636+646C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 chr5 76299573
chr5:76299580 T
T
 C
C
 1 a0001c0001t0126g0172
a0001c0001t0126g0172
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.1636+653T>C
c.1636+653T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 chr5 76299580
chr5:76299931 A
A
 G
G
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1637-798A>G
c.1637-798A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 chr5 76299931
chr5:76300156 A
A
 AATT
AATT
 25 a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0046g0050
others(22): Show 
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0046g0050
a0001c0001t0117g0012
a0001c0002t0103g0148
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0071g0228
a0002c0003t0119g0187
a0002c0006t0147g0195
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0019g0145
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
 25 HG00642.hp1
HG00735.hp1
HG01074.hp1
others(22): Show 
HG00642.hp1
HG00735.hp1
HG01074.hp1
HG01496.hp1
HG01496.hp2
HG01943.hp1
HG02015.hp1
HG02258.hp1
HG02258.hp2
HG02486.hp1
HG02895.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp1
NA18960.hp1
NA18975.hp2
NA19007.hp1
NA19043.hp2
NA19072.hp1
NA19081.hp2
NA19240.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1637-539_1637-537d
others(5): Show 
c.1637-539_1637-537dupATT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 INFO_REALIGN_3_PRIME chr5 76300156
chr5:76300156 A
A
 AATTATT
AATTATT
 16 a0001c0001t0001g0039
a0001c0001t0001g0058
a0001c0001t0003g0185
others(13): Show 
a0001c0001t0001g0039
a0001c0001t0001g0058
a0001c0001t0003g0185
a0001c0001t0010g0033
a0001c0001t0012g0083
a0001c0001t0042g0072
a0001c0002t0108g0120
a0001c0002t0144g0155
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0085g0215
a0003c0004t0016g0166
a0003c0004t0038g0066
a0003c0005t0034g0173
a0005c0011t0143g0015
 16 HG00738.hp2
HG00741.hp1
HG01928.hp1
others(13): Show 
HG00738.hp2
HG00741.hp1
HG01928.hp1
HG01943.hp2
HG02280.hp2
HG02300.hp2
HG02602.hp2
HG02615.hp2
HG02698.hp2
HG02976.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
NA18981.hp1
NA18998.hp2
NA19091.hp1
 intron_variant MODIFIER c.1637-542_1637-537d
others(8): Show 
c.1637-542_1637-537dupATTATT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 INFO_REALIGN_3_PRIME chr5 76300156
chr5:76300156 A
A
 AATTATTA
others(2): Show 
AATTATTATT
 47 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0054
others(44): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0003g0096
a0001c0001t0003g0165
a0001c0001t0003g0170
a0001c0001t0005g0100
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0041g0036
a0001c0001t0065g0233
a0001c0001t0070g0227
a0001c0001t0075g0115
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0123g0002
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0151g0151
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0002c0003t0013g0226
a0002c0003t0129g0188
 47 HG00140.hp1
HG00280.hp2
HG00423.hp1
others(44): Show 
HG00140.hp1
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00733.hp1
HG01074.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp2
HG01928.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02486.hp2
HG02602.hp1
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02886.hp2
HG02896.hp1
HG03486.hp1
HG04184.hp2
HG04228.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18968.hp1
NA18990.hp2
NA18992.hp1
NA19001.hp2
NA19005.hp1
NA19043.hp1
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19088.hp1
NA20805.hp2
 intron_variant MODIFIER c.1637-545_1637-537d
others(11): Show 
c.1637-545_1637-537dupATTATTATT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 INFO_REALIGN_3_PRIME chr5 76300156
chr5:76300156 A
A
 AATTATTA
others(5): Show 
AATTATTATTATT
 11 a0001c0001t0001g0061
a0001c0001t0007g0093
a0001c0001t0077g0212
others(8): Show 
a0001c0001t0001g0061
a0001c0001t0007g0093
a0001c0001t0077g0212
a0001c0001t0128g0006
a0001c0002t0014g0134
a0001c0002t0036g0176
a0001c0002t0064g0038
a0002c0003t0080g0084
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0139g0016
 11 HG00733.hp2
HG01884.hp1
HG02523.hp1
others(8): Show 
HG00733.hp2
HG01884.hp1
HG02523.hp1
HG02523.hp2
HG03041.hp2
HG03098.hp2
HG03209.hp2
NA18522.hp2
NA18966.hp2
NA19091.hp2
NA19240.hp1
 intron_variant MODIFIER c.1637-548_1637-537d
others(14): Show 
c.1637-548_1637-537dupATTATTATTATT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 INFO_REALIGN_3_PRIME chr5 76300156
chr5:76300156 A
A
 AATTATTA
others(8): Show 
AATTATTATTATTATT
 12 a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0171
others(9): Show 
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0033g0003
a0001c0007t0007g0078
a0002c0003t0086g0088
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0039g0062
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
 12 HG01891.hp1
HG02572.hp1
HG02717.hp1
others(9): Show 
HG01891.hp1
HG02572.hp1
HG02717.hp1
HG02895.hp2
HG03130.hp1
HG03225.hp2
NA18906.hp2
NA18945.hp1
NA18955.hp2
NA19007.hp2
NA19060.hp2
NA20129.hp2
 intron_variant MODIFIER c.1637-551_1637-537d
others(17): Show 
c.1637-551_1637-537dupATTATTATTATTATT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 INFO_REALIGN_3_PRIME chr5 76300156
chr5:76300156 AATT
AATT
 A
A
 89 a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
others(86): Show 
a0001c0001t0002g0023
a0001c0001t0002g0024
a0001c0001t0002g0094
a0001c0001t0002g0224
a0001c0001t0004g0219
a0001c0001t0005g0099
a0001c0001t0005g0162
a0001c0001t0008g0127
a0001c0001t0008g0130
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0011g0040
a0001c0001t0011g0065
a0001c0001t0013g0085
a0001c0001t0018g0044
a0001c0001t0024g0201
a0001c0001t0024g0203
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0043g0028
a0001c0001t0047g0046
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0088g0123
a0001c0001t0090g0106
a0001c0001t0121g0097
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0126g0172
a0001c0001t0130g0010
a0001c0001t0131g0181
a0001c0001t0132g0009
a0001c0001t0133g0157
a0001c0001t0135g0198
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0001t0141g0013
a0001c0002t0006g0174
a0001c0002t0006g0192
a0001c0002t0006g0196
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0015g0121
a0001c0002t0015g0138
a0001c0002t0025g0232
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0029g0141
a0001c0002t0029g0146
a0001c0002t0036g0014
a0001c0002t0037g0154
a0001c0002t0037g0194
a0001c0002t0060g0052
a0001c0002t0089g0081
a0001c0002t0096g0112
a0001c0002t0102g0234
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0111g0133
a0001c0002t0146g0175
a0001c0002t0148g0158
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0004c0010t0027g0110
a0004c0010t0027g0111
a0006c0012t0035g0153
a0007c0014t0005g0180
 89 HG00140.hp2
HG00642.hp2
HG00735.hp2
others(86): Show 
HG00140.hp2
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp2
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18906.hp1
NA18945.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19056.hp1
NA19060.hp1
NA19063.hp2
NA19083.hp1
NA19084.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1637-539_1637-537d
others(5): Show 
c.1637-539_1637-537delATT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 INFO_REALIGN_3_PRIME chr5 76300156
chr5:76300276 A
A
 G
G
 2 a0001c0001t0004g0080
a0001c0007t0004g0079
a0001c0001t0004g0080
a0001c0007t0004g0079
 2 HG02965.hp1
NA19240.hp2
HG02965.hp1
NA19240.hp2
 intron_variant MODIFIER c.1637-453A>G
c.1637-453A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 10/12 chr5 76300276
chr5:76301061 G
G
 A
A
 3 a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
 3 HG02896.hp1
HG02970.hp2
HG03209.hp1
HG02896.hp1
HG02970.hp2
HG03209.hp1
 intron_variant MODIFIER c.1840+129G>A
c.1840+129G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 11/12 chr5 76301061
chr5:76301090 A
A
 G
G
 1 a0001c0002t0013g0082
a0001c0002t0013g0082
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1840+158A>G
c.1840+158A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 11/12 chr5 76301090
chr5:76301151 A
A
 G
G
 1 a0001c0002t0111g0133
a0001c0002t0111g0133
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.1840+219A>G
c.1840+219A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 11/12 chr5 76301151
chr5:76301651 G
G
 A
A
 1 a0002c0003t0086g0088
a0002c0003t0086g0088
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.2000+106G>A
c.2000+106G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76301651
chr5:76301669 A
A
 G
G
 130 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(127): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0070g0227
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
 130 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(127): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG04184.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+124A>G
c.2000+124A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76301669
chr5:76301745 C
C
 T
T
 1 a0003c0004t0066g0086
a0003c0004t0066g0086
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.2000+200C>T
c.2000+200C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76301745
chr5:76301908 C
C
 CA
CA
 96 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(93): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0070g0227
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0081g0202
a0001c0001t0083g0204
a0001c0001t0090g0106
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0196
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0049g0025
a0002c0003t0087g0021
a0002c0006t0095g0091
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0016g0164
a0003c0005t0116g0126
a0005c0011t0143g0015
 96 HG00140.hp1
HG00280.hp2
HG00423.hp1
others(93): Show 
HG00140.hp1
HG00280.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG04228.hp2
NA18945.hp1
NA18952.hp2
NA18955.hp2
NA18966.hp2
NA18968.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.2000+385dupA
c.2000+385dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76301908
chr5:76301908 CA
CA
 C
C
 7 a0001c0001t0068g0092
a0001c0002t0037g0194
a0001c0002t0111g0133
others(4): Show 
a0001c0001t0068g0092
a0001c0002t0037g0194
a0001c0002t0111g0133
a0001c0002t0150g0191
a0002c0003t0086g0088
a0003c0004t0019g0145
a0003c0005t0019g0060
 7 HG01168.hp1
HG01256.hp2
HG01515.hp2
others(4): Show 
HG01168.hp1
HG01256.hp2
HG01515.hp2
HG01943.hp1
HG02717.hp1
HG02896.hp2
NA19081.hp2
 intron_variant MODIFIER c.2000+385delA
c.2000+385delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76301908
chr5:76302302 G
G
 A
A
 1 a0001c0001t0040g0070
a0001c0001t0040g0070
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.2000+757G>A
c.2000+757G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76302302
chr5:76302531 A
A
 G
G
 9 a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0013g0085
others(6): Show 
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0106g0210
a0001c0002t0107g0207
 9 HG02257.hp2
HG02630.hp2
HG02717.hp2
others(6): Show 
HG02257.hp2
HG02630.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.2000+986A>G
c.2000+986A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76302531
chr5:76302534 G
G
 A
A
 1 a0001c0002t0149g0019
a0001c0002t0149g0019
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.2000+989G>A
c.2000+989G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76302534
chr5:76302562 G
G
 A
A
 9 a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0013g0085
others(6): Show 
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0050g0041
a0001c0001t0125g0007
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0106g0210
a0001c0002t0107g0207
 9 HG02257.hp2
HG02630.hp2
HG02717.hp2
others(6): Show 
HG02257.hp2
HG02630.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.2000+1017G>A
c.2000+1017G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76302562
chr5:76302630 C
C
 CA
CA
 35 a0001c0001t0005g0099
a0001c0001t0018g0044
a0001c0001t0018g0067
others(32): Show 
a0001c0001t0005g0099
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0032g0160
a0001c0001t0043g0028
a0001c0001t0051g0035
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0056g0069
a0001c0001t0081g0202
a0001c0001t0090g0106
a0001c0001t0123g0002
a0001c0001t0126g0172
a0001c0001t0133g0157
a0001c0001t0136g0095
a0001c0001t0137g0159
a0001c0001t0138g0150
a0001c0002t0006g0196
a0001c0002t0015g0121
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0028g0128
a0001c0002t0028g0129
a0001c0002t0060g0052
a0001c0002t0096g0112
a0001c0002t0104g0020
a0001c0002t0105g0117
a0001c0002t0148g0158
a0001c0002t0152g0199
a0001c0002t0154g0197
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0007c0014t0005g0180
 35 HG00140.hp2
HG01109.hp2
HG01258.hp2
others(32): Show 
HG00140.hp2
HG01109.hp2
HG01258.hp2
HG01361.hp1
HG01981.hp1
HG01981.hp2
HG02056.hp1
HG02300.hp1
HG02451.hp1
HG02559.hp2
HG02698.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02922.hp2
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18966.hp1
NA18975.hp1
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19011.hp2
NA19056.hp1
NA19063.hp2
NA19084.hp1
 intron_variant MODIFIER c.2000+1109dupA
c.2000+1109dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76302630
chr5:76302630 CA
CA
 C
C
 110 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(107): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0003g0098
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0053g0045
a0001c0001t0065g0233
a0001c0001t0070g0227
a0001c0001t0075g0115
a0001c0001t0092g0211
a0001c0001t0118g0018
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0009g0186
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0149g0019
a0001c0002t0150g0191
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0087g0021
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
 110 HG00280.hp1
HG00280.hp2
HG00423.hp1
others(107): Show 
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02886.hp2
HG02895.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03704.hp1
HG04184.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.2000+1109delA
c.2000+1109delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76302630
chr5:76302630 CAA
CAA
 C
C
 8 a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0165
others(5): Show 
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0165
a0001c0001t0077g0212
a0001c0002t0151g0151
a0002c0003t0119g0187
a0003c0004t0005g0161
a0003c0004t0066g0086
 8 HG00140.hp1
HG02523.hp1
HG02523.hp2
others(5): Show 
HG00140.hp1
HG02523.hp1
HG02523.hp2
HG02895.hp2
HG02976.hp1
NA18960.hp1
NA18990.hp2
NA19005.hp1
 intron_variant MODIFIER c.2000+1108_2000+110
others(6): Show 
c.2000+1108_2000+1109delAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76302630
chr5:76302630 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 C
C
 1 a0001c0002t0035g0178
a0001c0002t0035g0178
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.2000+1097_2000+110
others(17): Show 
c.2000+1097_2000+1109delAAAAAAAAAAAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76302630
chr5:76302888 A
A
 T
T
 1 a0001c0001t0008g0127
a0001c0001t0008g0127
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.2000+1343A>T
c.2000+1343A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76302888
chr5:76303138 C
C
 A
A
 1 a0002c0003t0017g0030
a0002c0003t0017g0030
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.2000+1593C>A
c.2000+1593C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76303138
chr5:76303215 C
C
 T
T
 1 a0001c0001t0002g0024
a0001c0001t0002g0024
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.2000+1670C>T
c.2000+1670C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76303215
chr5:76303281 T
T
 C
C
 4 a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
others(1): Show 
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0147g0195
 4 HG01496.hp1
HG02896.hp1
HG02970.hp2
others(1): Show 
HG01496.hp1
HG02896.hp1
HG02970.hp2
HG03209.hp1
 intron_variant MODIFIER c.2000+1736T>C
c.2000+1736T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76303281
chr5:76303287 C
C
 T
T
 1 a0001c0001t0009g0008
a0001c0001t0009g0008
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2000+1742C>T
c.2000+1742C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76303287
chr5:76303340 C
C
 G
G
 2 a0002c0003t0026g0230
a0002c0003t0087g0021
a0002c0003t0026g0230
a0002c0003t0087g0021
 2 HG03471.hp2
NA18522.hp1
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.2000+1795C>G
c.2000+1795C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76303340
chr5:76303351 G
G
 C
C
 26 a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
others(23): Show 
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 26 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(23): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+1806G>C
c.2000+1806G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76303351
chr5:76303383 C
C
 T
T
 26 a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
others(23): Show 
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 26 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(23): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+1838C>T
c.2000+1838C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76303383
chr5:76303649 A
A
 G
G
 1 a0001c0001t0117g0012
a0001c0001t0117g0012
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.2000+2104A>G
c.2000+2104A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76303649
chr5:76303754 T
T
 G
G
 4 a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
others(1): Show 
a0002c0003t0013g0226
a0002c0003t0071g0228
a0002c0003t0085g0215
a0002c0006t0147g0195
 4 HG01496.hp1
HG02896.hp1
HG02970.hp2
others(1): Show 
HG01496.hp1
HG02896.hp1
HG02970.hp2
HG03209.hp1
 intron_variant MODIFIER c.2000+2209T>G
c.2000+2209T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76303754
chr5:76303780 C
C
 A
A
 28 a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
others(25): Show 
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 28 HG00280.hp1
HG00642.hp1
HG00735.hp1
others(25): Show 
HG00280.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02145.hp2
HG02572.hp1
HG02895.hp2
HG03130.hp1
NA18522.hp2
NA18906.hp2
NA18960.hp1
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19072.hp1
NA19081.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+2235C>A
c.2000+2235C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76303780
chr5:76303843 G
G
 T
T
 1 a0001c0001t0023g0102
a0001c0001t0023g0102
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.2000+2298G>T
c.2000+2298G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76303843
chr5:76303892 T
T
 C
C
 1 a0001c0001t0003g0171
a0001c0001t0003g0171
 1 NA18955.hp2
NA18955.hp2
 intron_variant MODIFIER c.2000+2347T>C
c.2000+2347T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76303892
chr5:76303983 G
G
 A
A
 1 a0001c0001t0011g0065
a0001c0001t0011g0065
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.2000+2438G>A
c.2000+2438G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76303983
chr5:76303988 C
C
 T
T
 1 a0001c0001t0007g0122
a0001c0001t0007g0122
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.2000+2443C>T
c.2000+2443C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76303988
chr5:76304326 A
A
 G
G
 131 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(128): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0005c0011t0143g0015
 131 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(128): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG04184.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19043.hp2
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+2781A>G
c.2000+2781A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76304326
chr5:76304514 G
G
 A
A
 2 a0001c0001t0005g0099
a0001c0001t0052g0055
a0001c0001t0005g0099
a0001c0001t0052g0055
 2 HG04184.hp1
NA19011.hp2
HG04184.hp1
NA19011.hp2
 intron_variant MODIFIER c.2000+2969G>A
c.2000+2969G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76304514
chr5:76304772 G
G
 A
A
 1 a0001c0001t0005g0162
a0001c0001t0005g0162
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.2000+3227G>A
c.2000+3227G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76304772
chr5:76304786 C
C
 T
T
 2 a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0003t0080g0084
a0002c0003t0129g0188
 2 HG01243.hp2
HG03209.hp2
HG01243.hp2
HG03209.hp2
 intron_variant MODIFIER c.2000+3241C>T
c.2000+3241C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76304786
chr5:76304940 A
A
 G
G
 1 a0001c0001t0070g0227
a0001c0001t0070g0227
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.2000+3395A>G
c.2000+3395A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76304940
chr5:76305004 C
C
 G
G
 1 a0001c0001t0042g0072
a0001c0001t0042g0072
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.2000+3459C>G
c.2000+3459C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76305004
chr5:76305104 G
G
 T
T
 109 a0001c0001t0001g0057
a0001c0001t0003g0167
a0001c0001t0003g0171
others(106): Show 
a0001c0001t0001g0057
a0001c0001t0003g0167
a0001c0001t0003g0171
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0012g0083
a0001c0001t0013g0085
a0001c0001t0022g0214
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0093g0205
a0001c0002t0100g0206
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0108g0120
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0149g0019
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0034g0173
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 109 HG00280.hp1
HG00423.hp1
HG00733.hp2
others(106): Show 
HG00280.hp1
HG00423.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
NA18522.hp1
NA18906.hp2
NA18945.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18992.hp2
NA18998.hp2
NA19005.hp2
NA19007.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp2
NA19068.hp1
NA19072.hp1
NA19079.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2000+3559G>T
c.2000+3559G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76305104
chr5:76305146 G
G
 T
T
 1 a0003c0004t0066g0086
a0003c0004t0066g0086
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.2000+3601G>T
c.2000+3601G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76305146
chr5:76305162 T
T
 C
C
 4 a0001c0001t0065g0233
a0001c0001t0117g0012
a0001c0001t0118g0018
others(1): Show 
a0001c0001t0065g0233
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0002t0093g0205
 4 HG02258.hp2
HG02886.hp2
HG03486.hp1
others(1): Show 
HG02258.hp2
HG02886.hp2
HG03486.hp1
NA19043.hp1
 intron_variant MODIFIER c.2000+3617T>C
c.2000+3617T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76305162
chr5:76305356 A
A
 G
G
 3 a0001c0001t0008g0217
a0001c0002t0110g0124
a0001c0002t0151g0151
a0001c0001t0008g0217
a0001c0002t0110g0124
a0001c0002t0151g0151
 3 HG00140.hp1
HG00733.hp1
NA20129.hp1
HG00140.hp1
HG00733.hp1
NA20129.hp1
 intron_variant MODIFIER c.2000+3811A>G
c.2000+3811A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76305356
chr5:76305402 G
G
 T
T
 1 a0001c0001t0073g0089
a0001c0001t0073g0089
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.2000+3857G>T
c.2000+3857G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76305402
chr5:76305624 C
C
 T
T
 1 a0001c0001t0073g0089
a0001c0001t0073g0089
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.2000+4079C>T
c.2000+4079C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76305624
chr5:76305829 A
A
 C
C
 1 a0002c0003t0071g0228
a0002c0003t0071g0228
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2000+4284A>C
c.2000+4284A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76305829
chr5:76305872 C
C
 T
T
 1 a0001c0001t0073g0089
a0001c0001t0073g0089
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.2000+4327C>T
c.2000+4327C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76305872
chr5:76305917 A
A
 T
T
 1 a0001c0001t0073g0089
a0001c0001t0073g0089
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.2000+4372A>T
c.2000+4372A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76305917
chr5:76306041 G
G
 A
A
 1 a0003c0005t0030g0137
a0003c0005t0030g0137
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+4496G>A
c.2000+4496G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76306041
chr5:76306223 A
A
 G
G
 7 a0001c0001t0125g0007
a0002c0008t0002g0216
a0002c0008t0002g0218
others(4): Show 
a0001c0001t0125g0007
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0139g0016
 7 HG01884.hp1
HG02055.hp1
HG02559.hp2
others(4): Show 
HG01884.hp1
HG02055.hp1
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02922.hp2
NA18522.hp2
 intron_variant MODIFIER c.2000+4678A>G
c.2000+4678A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76306223
chr5:76306255 T
T
 C
C
 1 a0001c0002t0015g0135
a0001c0002t0015g0135
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.2000+4710T>C
c.2000+4710T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76306255
chr5:76306354 C
C
 A
A
 9 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
others(6): Show 
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0065g0233
a0001c0001t0070g0227
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0002t0093g0205
a0002c0003t0071g0228
 9 HG00280.hp2
HG00738.hp2
HG01109.hp1
others(6): Show 
HG00280.hp2
HG00738.hp2
HG01109.hp1
HG01433.hp2
HG02258.hp2
HG02886.hp2
HG02970.hp2
HG03486.hp1
NA19043.hp1
 intron_variant MODIFIER c.2000+4809C>A
c.2000+4809C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76306354
chr5:76306566 C
C
 A
A
 37 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(34): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0085g0215
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 37 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(34): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG03209.hp1
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+5021C>A
c.2000+5021C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76306566
chr5:76306712 G
G
 A
A
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.2000+5167G>A
c.2000+5167G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76306712
chr5:76306724 A
A
 G
G
 37 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(34): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0085g0215
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 37 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(34): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG03209.hp1
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+5179A>G
c.2000+5179A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76306724
chr5:76306878 A
A
 C
C
 37 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(34): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0085g0215
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 37 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(34): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG03209.hp1
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+5333A>C
c.2000+5333A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76306878
chr5:76306969 C
C
 A
A
 1 a0001c0001t0001g0057
a0001c0001t0001g0057
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.2000+5424C>A
c.2000+5424C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76306969
chr5:76307391 G
G
 A
A
 37 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(34): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0085g0215
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 37 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(34): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG03209.hp1
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+5846G>A
c.2000+5846G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76307391
chr5:76307424 A
A
 G
G
 1 a0001c0001t0042g0072
a0001c0001t0042g0072
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.2000+5879A>G
c.2000+5879A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76307424
chr5:76307437 G
G
 A
A
 1 a0001c0002t0111g0133
a0001c0002t0111g0133
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.2000+5892G>A
c.2000+5892G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76307437
chr5:76307470 TC
TC
 T
T
 37 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(34): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0085g0215
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 37 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(34): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG03209.hp1
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+5926delC
c.2000+5926delC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76307470
chr5:76307484 G
G
 C
C
 4 a0001c0001t0011g0040
a0001c0001t0083g0204
a0001c0001t0084g0090
others(1): Show 
a0001c0001t0011g0040
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0131g0181
 4 HG02572.hp2
HG02723.hp2
HG03139.hp2
others(1): Show 
HG02572.hp2
HG02723.hp2
HG03139.hp2
HG03486.hp2
 intron_variant MODIFIER c.2000+5939G>C
c.2000+5939G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76307484
chr5:76307596 G
G
 T
T
 1 a0002c0006t0094g0142
a0002c0006t0094g0142
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.2000+6051G>T
c.2000+6051G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76307596
chr5:76307608 A
A
 G
G
 3 a0001c0001t0065g0233
a0001c0001t0118g0018
a0001c0002t0093g0205
a0001c0001t0065g0233
a0001c0001t0118g0018
a0001c0002t0093g0205
 3 HG02886.hp2
HG03486.hp1
NA19043.hp1
HG02886.hp2
HG03486.hp1
NA19043.hp1
 intron_variant MODIFIER c.2000+6063A>G
c.2000+6063A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76307608
chr5:76307950 C
C
 T
T
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.2000+6405C>T
c.2000+6405C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76307950
chr5:76307962 T
T
 G
G
 3 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
 3 HG00280.hp2
HG00738.hp2
HG01433.hp2
HG00280.hp2
HG00738.hp2
HG01433.hp2
 intron_variant MODIFIER c.2000+6417T>G
c.2000+6417T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76307962
chr5:76308050 C
C
 CTGTT
CTGTT
 4 a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0053g0045
others(1): Show 
a0001c0001t0032g0004
a0001c0001t0032g0160
a0001c0001t0053g0045
a0001c0002t0112g0116
 4 HG00423.hp2
HG03704.hp1
NA18966.hp1
others(1): Show 
HG00423.hp2
HG03704.hp1
NA18966.hp1
NA19056.hp2
 intron_variant MODIFIER c.2000+6508_2000+651
others(8): Show 
c.2000+6508_2000+6511dupTTTG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76308050
chr5:76308061 C
C
 A
A
 35 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(32): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 35 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(32): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+6516C>A
c.2000+6516C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76308061
chr5:76308274 G
G
 T
T
 1 a0001c0002t0144g0155
a0001c0002t0144g0155
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.2000+6729G>T
c.2000+6729G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76308274
chr5:76308413 T
T
 C
C
 1 a0002c0003t0071g0228
a0002c0003t0071g0228
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2000+6868T>C
c.2000+6868T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76308413
chr5:76308665 G
G
 A
A
 18 a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0046g0050
others(15): Show 
a0001c0001t0025g0231
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0048g0047
a0001c0001t0074g0208
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0122g0011
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0086g0088
a0004c0010t0027g0110
a0004c0010t0027g0111
 18 HG00735.hp2
HG00741.hp2
HG01106.hp1
others(15): Show 
HG00735.hp2
HG00741.hp2
HG01106.hp1
HG01884.hp2
HG01891.hp2
HG02145.hp1
HG02258.hp1
HG02451.hp2
HG02630.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03041.hp1
HG03540.hp1
HG03540.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.2000+7120G>A
c.2000+7120G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76308665
chr5:76308676 T
T
 TGAGA
TGAGA
 67 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(64): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0123g0002
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0110g0124
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0008t0007g0225
a0005c0011t0143g0015
 67 HG00140.hp1
HG00558.hp2
HG00733.hp1
others(64): Show 
HG00140.hp1
HG00558.hp2
HG00733.hp1
HG00733.hp2
HG01074.hp2
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18955.hp2
NA18966.hp2
NA18968.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19043.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.2000+7132_2000+713
others(8): Show 
c.2000+7132_2000+7135dupGAGA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76308676
chr5:76308845 G
G
 A
A
 35 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(32): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 35 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(32): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+7300G>A
c.2000+7300G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76308845
chr5:76309026 T
T
 G
G
 166 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(163): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0026g0230
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 166 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(163): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+7481T>G
c.2000+7481T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309026
chr5:76309042 T
T
 A
A
 156 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(153): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0048g0047
a0001c0001t0056g0069
a0001c0001t0065g0233
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0092g0211
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0109g0209
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0067g0109
a0002c0003t0071g0228
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0091g0107
a0003c0004t0120g0005
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 156 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(153): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18522.hp2
NA18906.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18981.hp2
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+7497T>A
c.2000+7497T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309042
chr5:76309090 A
A
 G
G
 9 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
others(6): Show 
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0065g0233
a0001c0001t0070g0227
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0002t0093g0205
a0002c0003t0071g0228
 9 HG00280.hp2
HG00738.hp2
HG01109.hp1
others(6): Show 
HG00280.hp2
HG00738.hp2
HG01109.hp1
HG01433.hp2
HG02258.hp2
HG02886.hp2
HG02970.hp2
HG03486.hp1
NA19043.hp1
 intron_variant MODIFIER c.2000+7545A>G
c.2000+7545A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309090
chr5:76309197 C
C
 T
T
 35 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(32): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 35 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(32): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+7652C>T
c.2000+7652C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309197
chr5:76309198 G
G
 A
A
 1 a0001c0001t0005g0099
a0001c0001t0005g0099
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.2000+7653G>A
c.2000+7653G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309198
chr5:76309231 A
A
 T
T
 1 a0001c0002t0015g0135
a0001c0002t0015g0135
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.2000+7686A>T
c.2000+7686A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309231
chr5:76309285 G
G
 C
C
 1 a0001c0001t0090g0106
a0001c0001t0090g0106
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.2000+7740G>C
c.2000+7740G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309285
chr5:76309327 A
A
 G
G
 35 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(32): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 35 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(32): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+7782A>G
c.2000+7782A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309327
chr5:76309357 T
T
 G
G
 35 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(32): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 35 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(32): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+7812T>G
c.2000+7812T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309357
chr5:76309375 C
C
 T
T
 4 a0002c0003t0085g0215
a0002c0006t0147g0195
a0003c0004t0009g0017
others(1): Show 
a0002c0003t0085g0215
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
 4 HG01496.hp1
HG02572.hp1
HG03209.hp1
others(1): Show 
HG01496.hp1
HG02572.hp1
HG03209.hp1
NA20129.hp2
 intron_variant MODIFIER c.2000+7830C>T
c.2000+7830C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309375
chr5:76309599 C
C
 CA
CA
 33 a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0004g0080
others(30): Show 
a0001c0001t0002g0224
a0001c0001t0003g0165
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0012g0083
a0001c0001t0018g0044
a0001c0001t0018g0067
a0001c0001t0031g0179
a0001c0001t0082g0220
a0001c0001t0136g0095
a0001c0002t0006g0156
a0001c0002t0006g0196
a0001c0002t0015g0138
a0001c0002t0020g0042
a0001c0002t0028g0128
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0060g0052
a0001c0002t0098g0113
a0001c0002t0100g0206
a0001c0002t0104g0020
a0001c0002t0145g0189
a0001c0007t0004g0077
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0044g0074
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
 33 HG00642.hp2
HG00733.hp2
HG01123.hp1
others(30): Show 
HG00642.hp2
HG00733.hp2
HG01123.hp1
HG01123.hp2
HG01361.hp1
HG02056.hp1
HG02109.hp2
HG02451.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02818.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG04184.hp2
NA18945.hp2
NA18990.hp1
NA18998.hp1
NA19001.hp1
NA19005.hp1
NA19043.hp2
NA19072.hp2
NA19084.hp1
NA20129.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.2000+8080dupA
c.2000+8080dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76309599
chr5:76309599 C
C
 CAA
CAA
 9 a0001c0001t0001g0059
a0001c0001t0007g0122
a0001c0001t0126g0172
others(6): Show 
a0001c0001t0001g0059
a0001c0001t0007g0122
a0001c0001t0126g0172
a0001c0002t0009g0186
a0001c0002t0028g0129
a0001c0007t0004g0075
a0001c0007t0004g0079
a0001c0009t0076g0213
a0005c0011t0143g0015
 9 HG02280.hp2
HG02486.hp1
HG02486.hp2
others(6): Show 
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02602.hp1
HG02738.hp1
NA19063.hp2
NA19083.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.2000+8079_2000+808
others(6): Show 
c.2000+8079_2000+8080dupAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76309599
chr5:76309599 CA
CA
 C
C
 27 a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0048g0047
others(24): Show 
a0001c0001t0040g0070
a0001c0001t0046g0050
a0001c0001t0048g0047
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0074g0208
a0001c0001t0122g0011
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0106g0210
a0001c0002t0149g0019
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0072g0143
a0002c0003t0080g0084
a0002c0003t0086g0088
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0034g0168
a0002c0006t0062g0068
a0002c0006t0063g0053
a0003c0004t0039g0062
a0003c0004t0069g0022
a0003c0004t0120g0005
 27 HG00558.hp1
HG00735.hp2
HG01109.hp1
others(24): Show 
HG00558.hp1
HG00735.hp2
HG01109.hp1
HG01243.hp2
HG01433.hp1
HG01891.hp1
HG02258.hp1
HG02630.hp1
HG02717.hp1
HG02809.hp1
HG02896.hp2
HG03041.hp1
HG03130.hp1
HG03209.hp2
HG03471.hp1
HG03540.hp1
HG03540.hp2
NA18906.hp2
NA18960.hp2
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19079.hp1
NA21309.hp2
 intron_variant MODIFIER c.2000+8080delA
c.2000+8080delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76309599
chr5:76309599 CAA
CAA
 C
C
 14 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
others(11): Show 
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0025g0231
a0001c0001t0065g0233
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0002t0093g0205
a0001c0002t0109g0209
a0002c0003t0071g0228
 14 HG00280.hp2
HG00738.hp2
HG01433.hp2
others(11): Show 
HG00280.hp2
HG00738.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG02145.hp1
HG02258.hp2
HG02451.hp2
HG02886.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03486.hp1
NA19043.hp1
 intron_variant MODIFIER c.2000+8079_2000+808
others(6): Show 
c.2000+8079_2000+8080delAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76309599
chr5:76309625 AC
AC
 A
A
 18 a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0157g0029
others(15): Show 
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0157g0029
a0002c0003t0059g0043
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0166
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0156g0193
 18 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(15): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01943.hp1
HG02015.hp1
HG02015.hp2
NA18960.hp1
NA19007.hp1
NA19056.hp1
NA19072.hp1
NA19088.hp1
NA19091.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+8081delC
c.2000+8081delC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309625
chr5:76309626 C
C
 A
A
 16 a0001c0001t0033g0003
a0001c0001t0125g0007
a0001c0001t0141g0013
others(13): Show 
a0001c0001t0033g0003
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0002t0114g0125
a0002c0003t0033g0169
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0016g0164
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0066g0086
a0003c0004t0139g0016
a0003c0005t0116g0126
a0003c0005t0155g0149
 16 HG01884.hp1
HG02055.hp1
HG02055.hp2
others(13): Show 
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19060.hp2
NA19081.hp2
NA20300.hp2
 intron_variant MODIFIER c.2000+8081C>A
c.2000+8081C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309626
chr5:76309626 CAGAAAGA
others(1): Show 
CAGAAAGAA
 C
C
 2 a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0003t0080g0084
a0002c0003t0129g0188
 2 HG01243.hp2
HG03209.hp2
HG01243.hp2
HG03209.hp2
 intron_variant MODIFIER c.2000+8091_2000+809
others(12): Show 
c.2000+8091_2000+8098delGAAAGAAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76309626
chr5:76309628 G
G
 A
A
 35 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(32): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 35 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(32): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+8083G>A
c.2000+8083G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309628
chr5:76309630 A
A
 AC
AC
 3 a0001c0001t0125g0007
a0002c0008t0002g0216
a0003c0005t0116g0126
a0001c0001t0125g0007
a0002c0008t0002g0216
a0003c0005t0116g0126
 3 HG02055.hp1
HG02145.hp2
HG02630.hp2
HG02055.hp1
HG02145.hp2
HG02630.hp2
 intron_variant MODIFIER c.2000+8085_2000+808
others(5): Show 
c.2000+8085_2000+8086insC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309630
chr5:76309630 A
A
 C
C
 32 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(29): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0155g0149
a0003c0005t0156g0193
 32 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(29): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02559.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+8085A>C
c.2000+8085A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76309630
chr5:76309757 CAAAG
CAAAG
 C
C
 35 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(32): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 35 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(32): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+8218_2000+822
others(8): Show 
c.2000+8218_2000+8221delAAGA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76309757
chr5:76310049 C
C
 CA
CA
 36 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0068g0092
others(33): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 36 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(33): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+8516dupA
c.2000+8516dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76310049
chr5:76310065 T
T
 G
G
 35 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(32): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 35 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(32): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+8520T>G
c.2000+8520T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76310065
chr5:76310353 A
A
 G
G
 35 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(32): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 35 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(32): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02559.hp2
HG02630.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+8808A>G
c.2000+8808A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76310353
chr5:76310533 G
G
 C
C
 18 a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
others(15): Show 
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0049g0025
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0120g0005
 18 HG00558.hp1
HG01433.hp1
HG01891.hp1
others(15): Show 
HG00558.hp1
HG01433.hp1
HG01891.hp1
HG02080.hp1
HG02615.hp1
HG02647.hp2
HG02976.hp1
HG03130.hp1
NA18906.hp2
NA18955.hp1
NA18960.hp2
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19011.hp1
NA19079.hp1
NA19084.hp2
NA19240.hp1
 intron_variant MODIFIER c.2000+8988G>C
c.2000+8988G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76310533
chr5:76310561 A
A
 G
G
 1 a0001c0002t0064g0038
a0001c0002t0064g0038
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.2000+9016A>G
c.2000+9016A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76310561
chr5:76310749 A
A
 G
G
 3 a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0140g0163
 3 HG00741.hp1
HG01496.hp2
NA20300.hp2
HG00741.hp1
HG01496.hp2
NA20300.hp2
 intron_variant MODIFIER c.2000+9204A>G
c.2000+9204A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76310749
chr5:76310829 T
T
 TAAGAAAT
others(330): Show 
TAAGAAATAACAGACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG
CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC
ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT
AGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA
GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA
TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0002c0006t0034g0168
a0002c0006t0034g0168
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.2000+9298_2000+929
others(341): Show 
c.2000+9298_2000+9299insGGGCCGGGCGCGGTGGCTCACGCCTG
TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG
ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA
CAAAAAATTAGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTCG
GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT
GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC
CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG
AAATAACAGAC
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76310829
chr5:76310883 T
T
 C
C
 68 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(65): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0123g0002
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0110g0124
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0031g0184
a0001c0009t0076g0213
a0001c0009t0134g0182
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0008t0007g0225
a0005c0011t0143g0015
 68 HG00140.hp1
HG00558.hp2
HG00733.hp1
others(65): Show 
HG00140.hp1
HG00558.hp2
HG00733.hp1
HG00733.hp2
HG01074.hp2
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01361.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18955.hp2
NA18966.hp2
NA18968.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19043.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2000+9338T>C
c.2000+9338T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76310883
chr5:76310977 G
G
 A
A
 2 a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0003t0080g0084
a0002c0003t0129g0188
 2 HG01243.hp2
HG03209.hp2
HG01243.hp2
HG03209.hp2
 intron_variant MODIFIER c.2000+9432G>A
c.2000+9432G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76310977
chr5:76311062 C
C
 T
T
 18 a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
others(15): Show 
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0049g0025
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0003c0004t0039g0062
a0003c0004t0045g0048
a0003c0004t0069g0022
a0003c0004t0120g0005
 18 HG00558.hp1
HG01433.hp1
HG01891.hp1
others(15): Show 
HG00558.hp1
HG01433.hp1
HG01891.hp1
HG02080.hp1
HG02615.hp1
HG02647.hp2
HG02976.hp1
HG03130.hp1
NA18906.hp2
NA18955.hp1
NA18960.hp2
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19011.hp1
NA19079.hp1
NA19084.hp2
NA19240.hp1
 intron_variant MODIFIER c.2000+9517C>T
c.2000+9517C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76311062
chr5:76311174 A
A
 G
G
 1 a0001c0001t0018g0067
a0001c0001t0018g0067
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.2000+9629A>G
c.2000+9629A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76311174
chr5:76311283 G
G
 A
A
 9 a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0013g0085
others(6): Show 
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0050g0041
a0001c0002t0013g0082
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0026g0230
a0002c0003t0087g0021
 9 HG02257.hp2
HG02809.hp2
HG02818.hp2
others(6): Show 
HG02257.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG03130.hp2
HG03471.hp1
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.2000+9738G>A
c.2000+9738G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76311283
chr5:76311460 A
A
 G
G
 9 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
others(6): Show 
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0065g0233
a0001c0001t0070g0227
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0002t0093g0205
a0002c0003t0071g0228
 9 HG00280.hp2
HG00738.hp2
HG01109.hp1
others(6): Show 
HG00280.hp2
HG00738.hp2
HG01109.hp1
HG01433.hp2
HG02258.hp2
HG02886.hp2
HG02970.hp2
HG03486.hp1
NA19043.hp1
 intron_variant MODIFIER c.2000+9915A>G
c.2000+9915A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76311460
chr5:76311760 C
C
 A
A
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.2000+10215C>A
c.2000+10215C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76311760
chr5:76311779 G
G
 A
A
 5 a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
others(2): Show 
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0057g0071
a0003c0004t0139g0016
 5 HG01884.hp1
HG02055.hp1
HG02559.hp2
others(2): Show 
HG01884.hp1
HG02055.hp1
HG02559.hp2
HG02922.hp2
NA18522.hp2
 intron_variant MODIFIER c.2000+10234G>A
c.2000+10234G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76311779
chr5:76311794 C
C
 T
T
 1 a0001c0002t0096g0112
a0001c0002t0096g0112
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.2000+10249C>T
c.2000+10249C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76311794
chr5:76311910 C
C
 T
T
 2 a0002c0003t0119g0187
a0002c0006t0095g0091
a0002c0003t0119g0187
a0002c0006t0095g0091
 2 HG02615.hp1
HG02976.hp1
HG02615.hp1
HG02976.hp1
 intron_variant MODIFIER c.2000+10365C>T
c.2000+10365C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76311910
chr5:76311942 T
T
 C
C
 1 a0001c0002t0009g0186
a0001c0002t0009g0186
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.2000+10397T>C
c.2000+10397T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76311942
chr5:76312159 C
C
 T
T
 36 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(33): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 36 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(33): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+10614C>T
c.2000+10614C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76312159
chr5:76312173 GT
GT
 G
G
 9 a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0013g0085
others(6): Show 
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0050g0041
a0001c0002t0013g0082
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0026g0230
a0002c0003t0087g0021
 9 HG02257.hp2
HG02809.hp2
HG02818.hp2
others(6): Show 
HG02257.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG03130.hp2
HG03471.hp1
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.2000+10630delT
c.2000+10630delT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76312173
chr5:76312263 T
T
 G
G
 7 a0001c0002t0025g0232
a0001c0002t0102g0234
a0001c0002t0104g0020
others(4): Show 
a0001c0002t0025g0232
a0001c0002t0102g0234
a0001c0002t0104g0020
a0002c0003t0085g0215
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
 7 HG01361.hp1
HG01496.hp1
HG02572.hp1
others(4): Show 
HG01361.hp1
HG01496.hp1
HG02572.hp1
HG02809.hp1
HG03209.hp1
NA20129.hp2
NA20905.hp1
 intron_variant MODIFIER c.2000+10718T>G
c.2000+10718T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76312263
chr5:76312263 TG
TG
 T
T
 18 a0001c0001t0125g0007
a0001c0001t0131g0181
a0001c0002t0009g0186
others(15): Show 
a0001c0001t0125g0007
a0001c0001t0131g0181
a0001c0002t0009g0186
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0049g0025
a0002c0003t0072g0143
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0003c0004t0039g0062
a0003c0004t0066g0086
a0003c0004t0069g0022
a0003c0004t0120g0005
 18 HG00558.hp1
HG01433.hp1
HG01891.hp1
others(15): Show 
HG00558.hp1
HG01433.hp1
HG01891.hp1
HG02080.hp1
HG02630.hp2
HG02647.hp2
HG02895.hp2
HG03130.hp1
HG03139.hp2
NA18906.hp2
NA18955.hp1
NA18960.hp2
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19011.hp1
NA19079.hp1
NA20300.hp1
 intron_variant MODIFIER c.2000+10728delG
c.2000+10728delG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76312263
chr5:76312264 G
G
 T
T
 3 a0001c0001t0012g0223
a0001c0001t0074g0208
a0002c0003t0067g0109
a0001c0001t0012g0223
a0001c0001t0074g0208
a0002c0003t0067g0109
 3 HG02647.hp1
HG03540.hp1
NA19084.hp2
HG02647.hp1
HG03540.hp1
NA19084.hp2
 intron_variant MODIFIER c.2000+10719G>T
c.2000+10719G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76312264
chr5:76312266 G
G
 T
T
 1 a0001c0001t0126g0172
a0001c0001t0126g0172
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.2000+10721G>T
c.2000+10721G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76312266
chr5:76312267 G
G
 T
T
 1 a0001c0007t0007g0078
a0001c0007t0007g0078
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.2000+10722G>T
c.2000+10722G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76312267
chr5:76312326 C
C
 G
G
 1 a0001c0002t0145g0189
a0001c0002t0145g0189
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.2000+10781C>G
c.2000+10781C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76312326
chr5:76312370 G
G
 A
A
 1 a0001c0002t0006g0156
a0001c0002t0006g0156
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.2000+10825G>A
c.2000+10825G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76312370
chr5:76312384 C
C
 T
T
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.2000+10839C>T
c.2000+10839C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76312384
chr5:76312533 A
A
 G
G
 2 a0004c0010t0027g0110
a0004c0010t0027g0111
a0004c0010t0027g0110
a0004c0010t0027g0111
 2 HG00741.hp2
HG01106.hp1
HG00741.hp2
HG01106.hp1
 intron_variant MODIFIER c.2000+10988A>G
c.2000+10988A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76312533
chr5:76312580 G
G
 A
A
 1 a0001c0001t0001g0054
a0001c0001t0001g0054
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.2000+11035G>A
c.2000+11035G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76312580
chr5:76312589 G
G
 A
A
 1 a0001c0001t0022g0108
a0001c0001t0022g0108
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.2000+11044G>A
c.2000+11044G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76312589
chr5:76312923 C
C
 A
A
 11 a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
others(8): Show 
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
 11 HG00558.hp1
HG01433.hp1
HG02080.hp1
others(8): Show 
HG00558.hp1
HG01433.hp1
HG02080.hp1
NA18955.hp1
NA18960.hp2
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19011.hp1
NA19079.hp1
NA19084.hp2
 intron_variant MODIFIER c.2000+11378C>A
c.2000+11378C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76312923
chr5:76313168 T
T
 C
C
 105 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(102): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 105 HG00140.hp1
HG00280.hp1
HG00423.hp1
others(102): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp1
HG01258.hp1
HG01261.hp2
HG01496.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19043.hp2
NA19056.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+11623T>C
c.2000+11623T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76313168
chr5:76313342 C
C
 T
T
 36 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(33): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 36 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(33): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2000+11797C>T
c.2000+11797C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76313342
chr5:76313392 T
T
 G
G
 1 a0002c0003t0071g0228
a0002c0003t0071g0228
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2000+11847T>G
c.2000+11847T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76313392
chr5:76313408 T
T
 C
C
 3 a0001c0001t0012g0083
a0001c0015t0079g0087
a0005c0011t0143g0015
a0001c0001t0012g0083
a0001c0015t0079g0087
a0005c0011t0143g0015
 3 HG02280.hp2
HG02615.hp2
HG03225.hp1
HG02280.hp2
HG02615.hp2
HG03225.hp1
 intron_variant MODIFIER c.2000+11863T>C
c.2000+11863T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76313408
chr5:76313465 C
C
 A
A
 1 a0001c0001t0042g0072
a0001c0001t0042g0072
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.2001-11899C>A
c.2001-11899C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76313465
chr5:76313748 C
C
 T
T
 1 a0001c0001t0007g0122
a0001c0001t0007g0122
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.2001-11616C>T
c.2001-11616C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76313748
chr5:76313861 T
T
 C
C
 72 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(69): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0110g0124
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0008t0007g0225
a0003c0004t0066g0086
a0005c0011t0143g0015
 72 HG00140.hp1
HG00558.hp2
HG00642.hp2
others(69): Show 
HG00140.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG01074.hp2
HG01123.hp2
HG01168.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp2
HG01928.hp1
HG01943.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18955.hp2
NA18966.hp2
NA18968.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19043.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2001-11503T>C
c.2001-11503T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76313861
chr5:76314249 G
G
 A
A
 37 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(34): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 37 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(34): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-11115G>A
c.2001-11115G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76314249
chr5:76314259 G
G
 A
A
 2 a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0003t0080g0084
a0002c0003t0129g0188
 2 HG01243.hp2
HG03209.hp2
HG01243.hp2
HG03209.hp2
 intron_variant MODIFIER c.2001-11105G>A
c.2001-11105G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76314259
chr5:76314403 C
C
 A
A
 2 a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0003t0080g0084
a0002c0003t0129g0188
 2 HG01243.hp2
HG03209.hp2
HG01243.hp2
HG03209.hp2
 intron_variant MODIFIER c.2001-10961C>A
c.2001-10961C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76314403
chr5:76314469 A
A
 AG
AG
 37 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(34): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 37 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(34): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-10891dupG
c.2001-10891dupG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76314469
chr5:76314522 G
G
 T
T
 37 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(34): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 37 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(34): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02896.hp1
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-10842G>T
c.2001-10842G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76314522
chr5:76314898 C
C
 A
A
 2 a0001c0001t0070g0227
a0002c0003t0071g0228
a0001c0001t0070g0227
a0002c0003t0071g0228
 2 HG01109.hp1
HG02970.hp2
HG01109.hp1
HG02970.hp2
 intron_variant MODIFIER c.2001-10466C>A
c.2001-10466C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76314898
chr5:76314909 C
C
 G
G
 1 a0001c0001t0008g0130
a0001c0001t0008g0130
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.2001-10455C>G
c.2001-10455C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76314909
chr5:76315049 A
A
 T
T
 37 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(34): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0005g0100
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0123g0002
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0142g0001
a0001c0002t0151g0151
a0001c0009t0076g0213
a0001c0013t0014g0119
 37 HG00140.hp1
HG00558.hp2
HG00733.hp1
others(34): Show 
HG00140.hp1
HG00558.hp2
HG00733.hp1
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01928.hp1
HG01943.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG04228.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18955.hp2
NA18966.hp2
NA18968.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19091.hp2
 intron_variant MODIFIER c.2001-10315A>T
c.2001-10315A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76315049
chr5:76315090 A
A
 C
C
 1 a0002c0003t0001g0026
a0002c0003t0001g0026
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.2001-10274A>C
c.2001-10274A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76315090
chr5:76315188 G
G
 GCA
GCA
 38 a0001c0001t0004g0219
a0001c0001t0018g0067
a0001c0001t0048g0047
others(35): Show 
a0001c0001t0004g0219
a0001c0001t0018g0067
a0001c0001t0048g0047
a0001c0001t0065g0233
a0001c0001t0070g0227
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0121g0097
a0001c0001t0128g0006
a0001c0001t0135g0198
a0001c0002t0037g0154
a0001c0002t0093g0205
a0001c0002t0144g0155
a0002c0003t0001g0026
a0002c0003t0021g0103
a0002c0003t0021g0105
a0002c0003t0067g0109
a0002c0003t0072g0143
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0119g0187
a0002c0003t0124g0183
a0002c0006t0034g0168
a0002c0006t0061g0049
a0002c0006t0062g0068
a0002c0006t0063g0053
a0002c0006t0094g0142
a0002c0006t0095g0091
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0012g0222
a0003c0004t0045g0048
a0003c0004t0057g0071
a0003c0004t0139g0016
a0004c0010t0027g0110
a0004c0010t0027g0111
 38 HG00558.hp1
HG00642.hp2
HG00735.hp2
others(35): Show 
HG00558.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01243.hp1
HG01433.hp1
HG01496.hp1
HG01884.hp1
HG02055.hp1
HG02056.hp1
HG02080.hp1
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02698.hp2
HG02717.hp1
HG02886.hp2
HG02922.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp1
HG03486.hp1
NA18522.hp2
NA18955.hp1
NA18960.hp2
NA18981.hp2
NA18992.hp2
NA19005.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19079.hp1
NA19083.hp1
NA19084.hp2
NA19240.hp1
 intron_variant MODIFIER c.2001-10145_2001-10
others(8): Show 
c.2001-10145_2001-10144dupCA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76315188
chr5:76315188 G
G
 GCACA
GCACA
 3 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
 3 HG00280.hp2
HG00738.hp2
HG01433.hp2
HG00280.hp2
HG00738.hp2
HG01433.hp2
 intron_variant MODIFIER c.2001-10147_2001-10
others(10): Show 
c.2001-10147_2001-10144dupCACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76315188
chr5:76315188 G
G
 GCACACA
GCACACA
 3 a0001c0002t0035g0178
a0001c0002t0098g0113
a0002c0003t0071g0228
a0001c0002t0035g0178
a0001c0002t0098g0113
a0002c0003t0071g0228
 3 HG01123.hp2
HG02109.hp2
HG02970.hp2
HG01123.hp2
HG02109.hp2
HG02970.hp2
 intron_variant MODIFIER c.2001-10149_2001-10
others(12): Show 
c.2001-10149_2001-10144dupCACACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76315188
chr5:76315188 GCA
GCA
 G
G
 50 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(47): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0005g0100
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0041g0036
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0099g0132
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0142g0001
a0001c0002t0151g0151
a0001c0009t0076g0213
a0001c0013t0014g0119
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0007g0225
a0003c0004t0066g0086
 50 HG00140.hp1
HG00423.hp1
HG00733.hp1
others(47): Show 
HG00140.hp1
HG00423.hp1
HG00733.hp1
HG01074.hp2
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01928.hp1
HG01943.hp2
HG02015.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02976.hp2
HG04184.hp2
HG04228.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18955.hp2
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp2
NA20805.hp2
 intron_variant MODIFIER c.2001-10145_2001-10
others(8): Show 
c.2001-10145_2001-10144delCA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76315188
chr5:76315188 GCACA
GCACA
 G
G
 17 a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0093
others(14): Show 
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0007g0093
a0001c0001t0012g0083
a0001c0001t0042g0072
a0001c0001t0056g0069
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0100g0206
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0015t0079g0087
a0002c0003t0044g0074
a0005c0011t0143g0015
 17 HG00733.hp2
HG02280.hp2
HG02486.hp1
others(14): Show 
HG00733.hp2
HG02280.hp2
HG02486.hp1
HG02615.hp2
HG02717.hp2
HG02723.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
NA19043.hp2
NA19056.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.2001-10147_2001-10
others(10): Show 
c.2001-10147_2001-10144delCACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76315188
chr5:76315190 A
A
 G
G
 2 a0002c0003t0026g0230
a0002c0003t0087g0021
a0002c0003t0026g0230
a0002c0003t0087g0021
 2 HG03471.hp2
NA18522.hp1
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.2001-10174A>G
c.2001-10174A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76315190
chr5:76315483 A
A
 T
T
 37 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(34): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 37 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(34): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02896.hp2
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-9881A>T
c.2001-9881A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76315483
chr5:76315529 A
A
 G
G
 36 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(33): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 36 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(33): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-9835A>G
c.2001-9835A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76315529
chr5:76315772 C
C
 T
T
 37 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(34): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 37 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(34): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02896.hp2
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-9592C>T
c.2001-9592C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76315772
chr5:76315817 T
T
 C
C
 1 a0001c0001t0031g0179
a0001c0001t0031g0179
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.2001-9547T>C
c.2001-9547T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76315817
chr5:76315961 C
C
 T
T
 3 a0001c0001t0048g0047
a0001c0001t0135g0198
a0002c0003t0086g0088
a0001c0001t0048g0047
a0001c0001t0135g0198
a0002c0003t0086g0088
 3 HG00735.hp2
HG02717.hp1
NA19030.hp1
HG00735.hp2
HG02717.hp1
NA19030.hp1
 intron_variant MODIFIER c.2001-9403C>T
c.2001-9403C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76315961
chr5:76316087 A
A
 G
G
 36 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(33): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 36 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(33): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-9277A>G
c.2001-9277A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76316087
chr5:76316114 A
A
 G
G
 1 a0001c0002t0098g0113
a0001c0002t0098g0113
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2001-9250A>G
c.2001-9250A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76316114
chr5:76316167 G
G
 A
A
 1 a0001c0001t0001g0054
a0001c0001t0001g0054
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.2001-9197G>A
c.2001-9197G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76316167
chr5:76316180 C
C
 T
T
 36 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(33): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 36 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(33): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-9184C>T
c.2001-9184C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76316180
chr5:76316303 C
C
 A
A
 2 a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0003t0080g0084
a0002c0003t0129g0188
 2 HG01243.hp2
HG03209.hp2
HG01243.hp2
HG03209.hp2
 intron_variant MODIFIER c.2001-9061C>A
c.2001-9061C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76316303
chr5:76316387 A
A
 G
G
 4 a0001c0001t0011g0040
a0001c0001t0083g0204
a0001c0001t0084g0090
others(1): Show 
a0001c0001t0011g0040
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0131g0181
 4 HG02572.hp2
HG02723.hp2
HG03139.hp2
others(1): Show 
HG02572.hp2
HG02723.hp2
HG03139.hp2
HG03486.hp2
 intron_variant MODIFIER c.2001-8977A>G
c.2001-8977A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76316387
chr5:76316413 T
T
 C
C
 36 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(33): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 36 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(33): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-8951T>C
c.2001-8951T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76316413
chr5:76316437 T
T
 C
C
 36 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(33): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 36 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(33): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-8927T>C
c.2001-8927T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76316437
chr5:76316507 T
T
 G
G
 36 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(33): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 36 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(33): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-8857T>G
c.2001-8857T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76316507
chr5:76316586 T
T
 A
A
 2 a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0003t0080g0084
a0002c0003t0129g0188
 2 HG01243.hp2
HG03209.hp2
HG01243.hp2
HG03209.hp2
 intron_variant MODIFIER c.2001-8778T>A
c.2001-8778T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76316586
chr5:76316855 A
A
 G
G
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.2001-8509A>G
c.2001-8509A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76316855
chr5:76316926 G
G
 A
A
 2 a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0003t0080g0084
a0002c0003t0129g0188
 2 HG01243.hp2
HG03209.hp2
HG01243.hp2
HG03209.hp2
 intron_variant MODIFIER c.2001-8438G>A
c.2001-8438G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76316926
chr5:76316932 C
C
 T
T
 1 a0001c0002t0099g0132
a0001c0002t0099g0132
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.2001-8432C>T
c.2001-8432C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76316932
chr5:76317038 TG
TG
 T
T
 2 a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0003t0080g0084
a0002c0003t0129g0188
 2 HG01243.hp2
HG03209.hp2
HG01243.hp2
HG03209.hp2
 intron_variant MODIFIER c.2001-8325delG
c.2001-8325delG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76317038
chr5:76317039 GA
GA
 G
G
 37 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(34): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 37 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(34): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02896.hp2
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-8318delA
c.2001-8318delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76317039
chr5:76317051 T
T
 A
A
 69 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(66): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0008t0007g0225
a0003c0004t0066g0086
a0005c0011t0143g0015
 69 HG00140.hp1
HG00558.hp2
HG00642.hp2
others(66): Show 
HG00140.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG01074.hp2
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01928.hp1
HG01943.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18955.hp2
NA18966.hp2
NA18968.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19011.hp1
NA19043.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.2001-8313T>A
c.2001-8313T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76317051
chr5:76317194 C
C
 T
T
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.2001-8170C>T
c.2001-8170C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76317194
chr5:76317386 T
T
 C
C
 4 a0001c0001t0065g0233
a0001c0001t0117g0012
a0001c0001t0118g0018
others(1): Show 
a0001c0001t0065g0233
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0002t0093g0205
 4 HG02258.hp2
HG02886.hp2
HG03486.hp1
others(1): Show 
HG02258.hp2
HG02886.hp2
HG03486.hp1
NA19043.hp1
 intron_variant MODIFIER c.2001-7978T>C
c.2001-7978T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76317386
chr5:76317440 C
C
 A
A
 1 a0001c0001t0065g0233
a0001c0001t0065g0233
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2001-7924C>A
c.2001-7924C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76317440
chr5:76317441 C
C
 A
A
 1 a0003c0004t0016g0164
a0003c0004t0016g0164
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.2001-7923C>A
c.2001-7923C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76317441
chr5:76317442 A
A
 C
C
 112 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(109): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0070g0227
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0110g0124
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 112 HG00140.hp1
HG00280.hp1
HG00423.hp1
others(109): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18955.hp2
NA18960.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-7922A>C
c.2001-7922A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76317442
chr5:76317443 A
A
 C
C
 3 a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
 3 HG01496.hp1
HG02572.hp1
NA20129.hp2
HG01496.hp1
HG02572.hp1
NA20129.hp2
 intron_variant MODIFIER c.2001-7921A>C
c.2001-7921A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76317443
chr5:76317454 C
C
 T
T
 2 a0003c0004t0057g0071
a0003c0004t0139g0016
a0003c0004t0057g0071
a0003c0004t0139g0016
 2 HG01884.hp1
NA18522.hp2
HG01884.hp1
NA18522.hp2
 intron_variant MODIFIER c.2001-7910C>T
c.2001-7910C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76317454
chr5:76317456 T
T
 C
C
 2 a0003c0004t0057g0071
a0003c0004t0139g0016
a0003c0004t0057g0071
a0003c0004t0139g0016
 2 HG01884.hp1
NA18522.hp2
HG01884.hp1
NA18522.hp2
 intron_variant MODIFIER c.2001-7908T>C
c.2001-7908T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76317456
chr5:76317514 C
C
 T
T
 10 a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0013g0085
others(7): Show 
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0050g0041
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0026g0230
a0002c0003t0087g0021
 10 HG02257.hp2
HG02809.hp2
HG02818.hp2
others(7): Show 
HG02257.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG03130.hp2
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA20300.hp1
 intron_variant MODIFIER c.2001-7850C>T
c.2001-7850C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76317514
chr5:76317698 C
C
 T
T
 1 a0001c0001t0070g0227
a0001c0001t0070g0227
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.2001-7666C>T
c.2001-7666C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76317698
chr5:76317745 C
C
 T
T
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.2001-7619C>T
c.2001-7619C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76317745
chr5:76318050 G
G
 T
T
 3 a0001c0001t0012g0083
a0001c0015t0079g0087
a0005c0011t0143g0015
a0001c0001t0012g0083
a0001c0015t0079g0087
a0005c0011t0143g0015
 3 HG02280.hp2
HG02615.hp2
HG03225.hp1
HG02280.hp2
HG02615.hp2
HG03225.hp1
 intron_variant MODIFIER c.2001-7314G>T
c.2001-7314G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76318050
chr5:76318077 ATTT
ATTT
 A
A
 34 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(31): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 34 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(31): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02922.hp2
NA18522.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-7285_2001-728
others(7): Show 
c.2001-7285_2001-7283delTTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76318077
chr5:76318161 G
G
 A
A
 4 a0001c0001t0011g0040
a0001c0001t0083g0204
a0001c0001t0084g0090
others(1): Show 
a0001c0001t0011g0040
a0001c0001t0083g0204
a0001c0001t0084g0090
a0001c0001t0131g0181
 4 HG02572.hp2
HG02723.hp2
HG03139.hp2
others(1): Show 
HG02572.hp2
HG02723.hp2
HG03139.hp2
HG03486.hp2
 intron_variant MODIFIER c.2001-7203G>A
c.2001-7203G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76318161
chr5:76318216 G
G
 A
A
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.2001-7148G>A
c.2001-7148G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76318216
chr5:76318422 A
A
 C
C
 35 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(32): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 35 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(32): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-6942A>C
c.2001-6942A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76318422
chr5:76318435 A
A
 G
G
 1 a0001c0001t0043g0028
a0001c0001t0043g0028
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.2001-6929A>G
c.2001-6929A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76318435
chr5:76318747 C
C
 T
T
 1 a0001c0001t0117g0012
a0001c0001t0117g0012
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.2001-6617C>T
c.2001-6617C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76318747
chr5:76318768 C
C
 G
G
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.2001-6596C>G
c.2001-6596C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76318768
chr5:76318803 C
C
 A
A
 1 a0001c0002t0100g0206
a0001c0002t0100g0206
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.2001-6561C>A
c.2001-6561C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76318803
chr5:76318830 AGAAG
AGAAG
 A
A
 7 a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0007t0004g0075
others(4): Show 
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0078g0076
a0002c0003t0044g0074
 7 HG02486.hp1
HG02965.hp1
HG03098.hp1
others(4): Show 
HG02486.hp1
HG02965.hp1
HG03098.hp1
HG03139.hp1
NA19043.hp2
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.2001-6532_2001-652
others(8): Show 
c.2001-6532_2001-6529delAAGG
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76318830
chr5:76318912 C
C
 T
T
 3 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
 3 HG00280.hp2
HG00738.hp2
HG01433.hp2
HG00280.hp2
HG00738.hp2
HG01433.hp2
 intron_variant MODIFIER c.2001-6452C>T
c.2001-6452C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76318912
chr5:76319034 A
A
 G
G
 34 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(31): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 34 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(31): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02922.hp2
NA18522.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-6330A>G
c.2001-6330A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319034
chr5:76319043 A
A
 C
C
 1 a0001c0002t0149g0019
a0001c0002t0149g0019
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.2001-6321A>C
c.2001-6321A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319043
chr5:76319079 A
A
 C
C
 2 a0001c0001t0070g0227
a0002c0003t0071g0228
a0001c0001t0070g0227
a0002c0003t0071g0228
 2 HG01109.hp1
HG02970.hp2
HG01109.hp1
HG02970.hp2
 intron_variant MODIFIER c.2001-6285A>C
c.2001-6285A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319079
chr5:76319216 C
C
 G
G
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.2001-6148C>G
c.2001-6148C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319216
chr5:76319238 T
T
 C
C
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.2001-6126T>C
c.2001-6126T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319238
chr5:76319248 CA
CA
 C
C
 109 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(106): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0013g0085
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0025g0231
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0048g0047
a0001c0001t0050g0041
a0001c0001t0065g0233
a0001c0001t0070g0227
a0001c0001t0073g0089
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0128g0006
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0002t0006g0156
a0001c0002t0009g0186
a0001c0002t0013g0082
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0025g0232
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0089g0081
a0001c0002t0093g0205
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0106g0210
a0001c0002t0107g0207
a0001c0002t0109g0209
a0001c0002t0142g0001
a0001c0002t0149g0019
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0026g0230
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0086g0088
a0002c0003t0087g0021
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0007g0225
a0003c0004t0009g0017
a0003c0004t0026g0147
a0003c0004t0045g0048
a0003c0004t0066g0086
a0005c0011t0143g0015
 109 HG00140.hp1
HG00280.hp2
HG00558.hp2
others(106): Show 
HG00140.hp1
HG00280.hp2
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG04184.hp2
HG04228.hp2
NA18522.hp1
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18955.hp2
NA18966.hp2
NA18968.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2001-6104delA
c.2001-6104delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76319248
chr5:76319248 CAA
CAA
 C
C
 35 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(32): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 35 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(32): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02896.hp2
HG02922.hp2
NA18522.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-6105_2001-610
others(6): Show 
c.2001-6105_2001-6104delAA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76319248
chr5:76319259 A
A
 C
C
 1 a0001c0002t0015g0135
a0001c0002t0015g0135
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.2001-6105A>C
c.2001-6105A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319259
chr5:76319281 C
C
 T
T
 1 a0001c0001t0117g0012
a0001c0001t0117g0012
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.2001-6083C>T
c.2001-6083C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319281
chr5:76319282 G
G
 A
A
 68 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(65): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0142g0001
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0008t0007g0225
a0003c0004t0066g0086
a0005c0011t0143g0015
 68 HG00140.hp1
HG00558.hp2
HG00733.hp1
others(65): Show 
HG00140.hp1
HG00558.hp2
HG00733.hp1
HG00733.hp2
HG01074.hp2
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01928.hp1
HG01943.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18955.hp2
NA18966.hp2
NA18968.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19011.hp1
NA19043.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.2001-6082G>A
c.2001-6082G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319282
chr5:76319399 C
C
 T
T
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.2001-5965C>T
c.2001-5965C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319399
chr5:76319405 G
G
 A
A
 1 a0001c0002t0015g0138
a0001c0002t0015g0138
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.2001-5959G>A
c.2001-5959G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319405
chr5:76319451 C
C
 T
T
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.2001-5913C>T
c.2001-5913C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319451
chr5:76319508 C
C
 T
T
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.2001-5856C>T
c.2001-5856C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319508
chr5:76319509 G
G
 A
A
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.2001-5855G>A
c.2001-5855G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319509
chr5:76319520 T
T
 C
C
 1 a0001c0001t0042g0072
a0001c0001t0042g0072
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.2001-5844T>C
c.2001-5844T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319520
chr5:76319628 G
G
 A
A
 2 a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0003t0080g0084
a0002c0003t0129g0188
 2 HG01243.hp2
HG03209.hp2
HG01243.hp2
HG03209.hp2
 intron_variant MODIFIER c.2001-5736G>A
c.2001-5736G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319628
chr5:76319631 C
C
 A
A
 34 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(31): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 34 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(31): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02922.hp2
NA18522.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-5733C>A
c.2001-5733C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319631
chr5:76319719 G
G
 A
A
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.2001-5645G>A
c.2001-5645G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319719
chr5:76319837 T
T
 C
C
 1 a0001c0001t0068g0092
a0001c0001t0068g0092
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.2001-5527T>C
c.2001-5527T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76319837
chr5:76320134 A
A
 G
G
 27 a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
others(24): Show 
a0001c0001t0033g0003
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0033g0169
a0002c0003t0059g0043
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
 27 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(24): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG01074.hp1
HG01243.hp1
HG01496.hp2
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp2
HG02145.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-5230A>G
c.2001-5230A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76320134
chr5:76320147 G
G
 A
A
 12 a0001c0001t0025g0231
a0001c0001t0048g0047
a0001c0001t0082g0220
others(9): Show 
a0001c0001t0025g0231
a0001c0001t0048g0047
a0001c0001t0082g0220
a0001c0001t0088g0123
a0001c0001t0130g0010
a0001c0001t0132g0009
a0001c0001t0135g0198
a0001c0002t0025g0232
a0001c0002t0089g0081
a0001c0002t0109g0209
a0001c0002t0149g0019
a0002c0003t0086g0088
 12 HG00735.hp2
HG01884.hp2
HG01891.hp2
others(9): Show 
HG00735.hp2
HG01884.hp2
HG01891.hp2
HG02145.hp1
HG02451.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp2
HG03540.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.2001-5217G>A
c.2001-5217G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76320147
chr5:76320153 C
C
 CT
CT
 40 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
others(37): Show 
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0073g0089
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0001g0026
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 40 HG00280.hp1
HG00280.hp2
HG00423.hp1
others(37): Show 
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02922.hp2
HG03209.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19011.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-5193dupT
c.2001-5193dupT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76320153
chr5:76320153 C
C
 CTT
CTT
 10 a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0013g0085
others(7): Show 
a0001c0001t0009g0008
a0001c0001t0009g0190
a0001c0001t0013g0085
a0001c0001t0050g0041
a0001c0002t0013g0082
a0001c0002t0106g0210
a0001c0002t0107g0207
a0002c0003t0085g0215
a0002c0006t0147g0195
a0003c0004t0026g0147
 10 HG01496.hp1
HG02257.hp2
HG02572.hp1
others(7): Show 
HG01496.hp1
HG02257.hp2
HG02572.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG03130.hp2
HG03209.hp1
HG03471.hp1
 intron_variant MODIFIER c.2001-5194_2001-519
others(6): Show 
c.2001-5194_2001-5193dupTT
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76320153
chr5:76320248 T
T
 A
A
 2 a0002c0003t0080g0084
a0002c0003t0129g0188
a0002c0003t0080g0084
a0002c0003t0129g0188
 2 HG01243.hp2
HG03209.hp2
HG01243.hp2
HG03209.hp2
 intron_variant MODIFIER c.2001-5116T>A
c.2001-5116T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76320248
chr5:76320290 G
G
 C
C
 1 a0001c0001t0073g0089
a0001c0001t0073g0089
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.2001-5074G>C
c.2001-5074G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76320290
chr5:76320422 A
A
 G
G
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.2001-4942A>G
c.2001-4942A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76320422
chr5:76320573 CAAAAACA
others(16): Show 
CAAAAACATCTATTCATATTTCTA
 C
C
 2 a0001c0001t0048g0047
a0001c0001t0135g0198
a0001c0001t0048g0047
a0001c0001t0135g0198
 2 HG00735.hp2
NA19030.hp1
HG00735.hp2
NA19030.hp1
 intron_variant MODIFIER c.2001-4783_2001-476
others(27): Show 
c.2001-4783_2001-4761delTCTATTCATATTTCTAAAAAACA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76320573
chr5:76320926 A
A
 G
G
 1 a0001c0001t0137g0159
a0001c0001t0137g0159
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.2001-4438A>G
c.2001-4438A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76320926
chr5:76320974 C
C
 A
A
 106 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(103): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0124g0183
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 106 HG00140.hp1
HG00280.hp1
HG00423.hp1
others(103): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp1
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-4390C>A
c.2001-4390C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76320974
chr5:76321300 G
G
 GA
GA
 107 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(104): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0124g0183
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 107 HG00140.hp1
HG00280.hp1
HG00423.hp1
others(104): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp1
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-4054dupA
c.2001-4054dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76321300
chr5:76321346 C
C
 G
G
 1 a0001c0002t0036g0014
a0001c0002t0036g0014
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.2001-4018C>G
c.2001-4018C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76321346
chr5:76321549 G
G
 A
A
 3 a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
a0001c0002t0152g0199
a0001c0002t0153g0200
a0001c0002t0154g0197
 3 HG00140.hp2
HG01256.hp1
HG01258.hp2
HG00140.hp2
HG01256.hp1
HG01258.hp2
 intron_variant MODIFIER c.2001-3815G>A
c.2001-3815G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76321549
chr5:76321608 G
G
 T
T
 1 a0002c0003t0049g0025
a0002c0003t0049g0025
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.2001-3756G>T
c.2001-3756G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76321608
chr5:76321674 G
G
 A
A
 1 a0001c0001t0065g0233
a0001c0001t0065g0233
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2001-3690G>A
c.2001-3690G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76321674
chr5:76321746 G
G
 GA
GA
 13 a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
others(10): Show 
a0001c0001t0052g0055
a0001c0001t0054g0063
a0001c0001t0055g0064
a0001c0001t0065g0233
a0001c0001t0090g0106
a0001c0001t0117g0012
a0001c0001t0118g0018
a0001c0001t0128g0006
a0001c0001t0136g0095
a0001c0002t0015g0135
a0001c0002t0015g0138
a0001c0002t0093g0205
a0003c0004t0045g0048
 13 HG01981.hp1
HG02258.hp2
HG02698.hp1
others(10): Show 
HG01981.hp1
HG02258.hp2
HG02698.hp1
HG02886.hp2
HG03098.hp2
HG03486.hp1
HG04184.hp1
NA18951.hp2
NA18975.hp1
NA18990.hp1
NA19001.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.2001-3601dupA
c.2001-3601dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76321746
chr5:76321746 GA
GA
 G
G
 113 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(110): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0029g0146
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0111g0133
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 113 HG00140.hp1
HG00280.hp1
HG00423.hp1
others(110): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-3601delA
c.2001-3601delA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76321746
chr5:76321795 A
A
 T
T
 1 a0002c0003t0067g0109
a0002c0003t0067g0109
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.2001-3569A>T
c.2001-3569A>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76321795
chr5:76321905 A
A
 G
G
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.2001-3459A>G
c.2001-3459A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76321905
chr5:76321914 A
A
 G
G
 1 a0001c0002t0006g0177
a0001c0002t0006g0177
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.2001-3450A>G
c.2001-3450A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76321914
chr5:76322064 A
A
 C
C
 35 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(32): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0114g0125
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 35 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(32): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02922.hp2
NA18522.hp2
NA18952.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-3300A>C
c.2001-3300A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76322064
chr5:76322109 T
T
 C
C
 4 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
others(1): Show 
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0073g0089
 4 HG00280.hp2
HG00738.hp2
HG01433.hp2
others(1): Show 
HG00280.hp2
HG00738.hp2
HG01433.hp2
NA21309.hp2
 intron_variant MODIFIER c.2001-3255T>C
c.2001-3255T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76322109
chr5:76322112 G
G
 A
A
 1 a0001c0001t0070g0227
a0001c0001t0070g0227
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.2001-3252G>A
c.2001-3252G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76322112
chr5:76322208 C
C
 T
T
 5 a0001c0001t0017g0034
a0001c0001t0041g0036
a0001c0002t0006g0156
others(2): Show 
a0001c0001t0017g0034
a0001c0001t0041g0036
a0001c0002t0006g0156
a0001c0002t0099g0132
a0001c0002t0101g0144
 5 HG01074.hp2
HG01261.hp2
HG02735.hp1
others(2): Show 
HG01074.hp2
HG01261.hp2
HG02735.hp1
HG04184.hp2
NA20805.hp2
 intron_variant MODIFIER c.2001-3156C>T
c.2001-3156C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76322208
chr5:76322438 T
T
 G
G
 1 a0001c0002t0014g0134
a0001c0002t0014g0134
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.2001-2926T>G
c.2001-2926T>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76322438
chr5:76322480 C
C
 A
A
 2 a0001c0001t0008g0217
a0001c0002t0151g0151
a0001c0001t0008g0217
a0001c0002t0151g0151
 2 HG00140.hp1
HG00733.hp1
HG00140.hp1
HG00733.hp1
 intron_variant MODIFIER c.2001-2884C>A
c.2001-2884C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76322480
chr5:76322738 C
C
 G
G
 105 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(102): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0124g0183
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 105 HG00140.hp1
HG00280.hp1
HG00423.hp1
others(102): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp1
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-2626C>G
c.2001-2626C>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76322738
chr5:76322871 T
T
 C
C
 2 a0001c0001t0011g0040
a0001c0001t0131g0181
a0001c0001t0011g0040
a0001c0001t0131g0181
 2 HG02723.hp2
HG03139.hp2
HG02723.hp2
HG03139.hp2
 intron_variant MODIFIER c.2001-2493T>C
c.2001-2493T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76322871
chr5:76323101 A
A
 C
C
 107 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(104): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0124g0183
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 107 HG00140.hp1
HG00280.hp1
HG00423.hp1
others(104): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp1
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-2263A>C
c.2001-2263A>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76323101
chr5:76323147 G
G
 C
C
 1 a0001c0002t0035g0178
a0001c0002t0035g0178
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.2001-2217G>C
c.2001-2217G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76323147
chr5:76323339 C
C
 T
T
 5 a0001c0001t0040g0070
a0001c0001t0070g0227
a0001c0001t0074g0208
others(2): Show 
a0001c0001t0040g0070
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0122g0011
a0002c0003t0071g0228
 5 HG01109.hp1
HG02630.hp1
HG02970.hp2
others(2): Show 
HG01109.hp1
HG02630.hp1
HG02970.hp2
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.2001-2025C>T
c.2001-2025C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76323339
chr5:76323483 C
C
 T
T
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.2001-1881C>T
c.2001-1881C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76323483
chr5:76323581 A
A
 G
G
 119 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(116): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0033g0003
a0001c0001t0040g0070
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0068g0092
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0092g0211
a0001c0001t0122g0011
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0001t0141g0013
a0001c0001t0157g0029
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0110g0124
a0001c0002t0114g0125
a0001c0002t0142g0001
a0001c0002t0144g0155
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0033g0169
a0002c0003t0044g0074
a0002c0003t0049g0025
a0002c0003t0059g0043
a0002c0003t0071g0228
a0002c0003t0080g0084
a0002c0003t0085g0215
a0002c0003t0124g0183
a0002c0003t0129g0188
a0002c0006t0147g0195
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0002c0008t0007g0225
a0003c0004t0005g0161
a0003c0004t0009g0017
a0003c0004t0012g0222
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0026g0147
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0066g0086
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
a0005c0011t0143g0015
 119 HG00140.hp1
HG00280.hp1
HG00423.hp1
others(116): Show 
HG00140.hp1
HG00280.hp1
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03540.hp1
HG04184.hp2
HG04228.hp2
NA18522.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19011.hp1
NA19043.hp2
NA19056.hp1
NA19060.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-1783A>G
c.2001-1783A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76323581
chr5:76323642 C
C
 T
T
 33 a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
others(30): Show 
a0001c0001t0033g0003
a0001c0001t0046g0050
a0001c0001t0056g0069
a0001c0001t0092g0211
a0001c0001t0141g0013
a0001c0001t0157g0029
a0002c0003t0033g0169
a0002c0003t0059g0043
a0002c0008t0002g0216
a0002c0008t0002g0218
a0002c0008t0002g0221
a0003c0004t0005g0161
a0003c0004t0016g0101
a0003c0004t0016g0164
a0003c0004t0016g0166
a0003c0004t0019g0145
a0003c0004t0038g0066
a0003c0004t0057g0071
a0003c0004t0058g0051
a0003c0004t0091g0107
a0003c0004t0139g0016
a0003c0004t0140g0163
a0003c0005t0019g0060
a0003c0005t0030g0118
a0003c0005t0030g0137
a0003c0005t0034g0173
a0003c0005t0113g0140
a0003c0005t0115g0139
a0003c0005t0116g0126
a0003c0005t0155g0149
a0003c0005t0156g0193
a0004c0010t0027g0110
a0004c0010t0027g0111
 33 HG00280.hp1
HG00423.hp1
HG00642.hp1
others(30): Show 
HG00280.hp1
HG00423.hp1
HG00642.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01106.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02015.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02922.hp2
NA18522.hp2
NA18960.hp1
NA18968.hp2
NA18975.hp2
NA18981.hp1
NA19007.hp1
NA19056.hp1
NA19060.hp2
NA19072.hp1
NA19081.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2001-1722C>T
c.2001-1722C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76323642
chr5:76323678 C
C
 T
T
 2 a0002c0006t0034g0168
a0002c0006t0063g0053
a0002c0006t0034g0168
a0002c0006t0063g0053
 2 HG00558.hp1
NA18960.hp2
HG00558.hp1
NA18960.hp2
 intron_variant MODIFIER c.2001-1686C>T
c.2001-1686C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76323678
chr5:76323804 G
G
 A
A
 69 a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
others(66): Show 
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0054
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0003g0096
a0001c0001t0003g0098
a0001c0001t0003g0165
a0001c0001t0003g0167
a0001c0001t0003g0170
a0001c0001t0003g0171
a0001c0001t0003g0185
a0001c0001t0004g0080
a0001c0001t0004g0219
a0001c0001t0004g0229
a0001c0001t0005g0100
a0001c0001t0007g0093
a0001c0001t0007g0122
a0001c0001t0008g0217
a0001c0001t0011g0056
a0001c0001t0012g0083
a0001c0001t0012g0223
a0001c0001t0017g0034
a0001c0001t0022g0108
a0001c0001t0022g0214
a0001c0001t0023g0102
a0001c0001t0023g0131
a0001c0001t0041g0036
a0001c0001t0042g0072
a0001c0001t0075g0115
a0001c0001t0077g0212
a0001c0001t0123g0002
a0001c0001t0125g0007
a0001c0002t0006g0156
a0001c0002t0014g0134
a0001c0002t0014g0136
a0001c0002t0020g0042
a0001c0002t0020g0073
a0001c0002t0035g0178
a0001c0002t0036g0014
a0001c0002t0036g0176
a0001c0002t0064g0038
a0001c0002t0097g0114
a0001c0002t0098g0113
a0001c0002t0099g0132
a0001c0002t0100g0206
a0001c0002t0101g0144
a0001c0002t0103g0148
a0001c0002t0142g0001
a0001c0002t0151g0151
a0001c0007t0004g0075
a0001c0007t0004g0077
a0001c0007t0004g0079
a0001c0007t0007g0078
a0001c0007t0078g0076
a0001c0009t0076g0213
a0001c0013t0014g0119
a0001c0015t0079g0087
a0002c0003t0001g0026
a0002c0003t0013g0226
a0002c0003t0017g0030
a0002c0003t0044g0074
a0002c0003t0124g0183
a0002c0008t0007g0225
a0003c0004t0066g0086
a0005c0011t0143g0015
 69 HG00140.hp1
HG00558.hp2
HG00642.hp2
others(66): Show 
HG00140.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG01074.hp2
HG01123.hp2
HG01168.hp2
HG01258.hp1
HG01261.hp2
HG01433.hp1
HG01928.hp1
HG01943.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02280.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG04184.hp2
HG04228.hp2
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18955.hp2
NA18966.hp2
NA18968.hp1
NA18990.hp2
NA18992.hp1
NA18998.hp2
NA19001.hp2
NA19005.hp1
NA19007.hp2
NA19011.hp1
NA19043.hp2
NA19063.hp1
NA19068.hp1
NA19068.hp2
NA19072.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.2001-1560G>A
c.2001-1560G>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76323804
chr5:76324261 G
G
 T
T
 4 a0002c0003t0085g0215
a0002c0006t0147g0195
a0003c0004t0009g0017
others(1): Show 
a0002c0003t0085g0215
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
 4 HG01496.hp1
HG02572.hp1
HG03209.hp1
others(1): Show 
HG01496.hp1
HG02572.hp1
HG03209.hp1
NA20129.hp2
 intron_variant MODIFIER c.2001-1103G>T
c.2001-1103G>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76324261
chr5:76324484 T
T
 A
A
 4 a0002c0003t0085g0215
a0002c0006t0147g0195
a0003c0004t0009g0017
others(1): Show 
a0002c0003t0085g0215
a0002c0006t0147g0195
a0003c0004t0009g0017
a0003c0004t0026g0147
 4 HG01496.hp1
HG02572.hp1
HG03209.hp1
others(1): Show 
HG01496.hp1
HG02572.hp1
HG03209.hp1
NA20129.hp2
 intron_variant MODIFIER c.2001-880T>A
c.2001-880T>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76324484
chr5:76324495 C
C
 A
A
 1 a0006c0012t0035g0153
a0006c0012t0035g0153
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.2001-869C>A
c.2001-869C>A
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76324495
chr5:76324691 T
T
 TA
TA
 5 a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
others(2): Show 
a0001c0001t0010g0032
a0001c0001t0010g0033
a0001c0001t0010g0037
a0001c0001t0073g0089
a0002c0008t0002g0216
 5 HG00280.hp2
HG00738.hp2
HG01433.hp2
others(2): Show 
HG00280.hp2
HG00738.hp2
HG01433.hp2
HG02055.hp1
NA21309.hp2
 intron_variant MODIFIER c.2001-661dupA
c.2001-661dupA
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 INFO_REALIGN_3_PRIME chr5 76324691
chr5:76324949 G
G
 C
C
 5 a0001c0001t0040g0070
a0001c0001t0070g0227
a0001c0001t0074g0208
others(2): Show 
a0001c0001t0040g0070
a0001c0001t0070g0227
a0001c0001t0074g0208
a0001c0001t0122g0011
a0002c0003t0071g0228
 5 HG01109.hp1
HG02630.hp1
HG02970.hp2
others(2): Show 
HG01109.hp1
HG02630.hp1
HG02970.hp2
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.2001-415G>C
c.2001-415G>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76324949
chr5:76325111 C
C
 T
T
 1 a0001c0002t0150g0191
a0001c0002t0150g0191
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.2001-253C>T
c.2001-253C>T
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76325111
chr5:76325203 A
A
 G
G
 2 a0001c0001t0128g0006
a0003c0004t0045g0048
a0001c0001t0128g0006
a0003c0004t0045g0048
 2 HG03098.hp2
NA19240.hp1
HG03098.hp2
NA19240.hp1
 intron_variant MODIFIER c.2001-161A>G
c.2001-161A>G
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76325203
chr5:76325255 T
T
 C
C
 1 a0001c0001t0011g0065
a0001c0001t0011g0065
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.2001-109T>C
c.2001-109T>C
SV2C ENSG00000122012.14 transcript ENST00000502798.7 protein_coding 12/12 chr5 76325255

  • 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.