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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   DDX54_chr12_113152173_113190478  DDX54_chr12_113152173_113190478 (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 79039
ensemblid ENSG00000123064.13
hgncid 20084
symbol DDX54
name DEAD-box helicase 54
refseq_nuc NM_024072.4
refseq_prot NP_076977.3
ensembl_nuc ENST00000306014.10
ensembl_prot ENSP00000304072.5
mane_status MANE Select
chr chr12
start 113157173
end 113185478
strand -
ver v1.2
region chr12:113157173-113185478
region5000 chr12:113152173-113190478
regionname0 DDX54_chr12_113157173_113185478
regionname5000 DDX54_chr12_113152173_113190478

ahapid grch38/
chm13v2
alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 881 212 56 38 77 11 28 62 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0002 0/0 881 41 7 0 33 0 1 30 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0003 0/0 882 27 7 0 17 0 3 15 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0004 0/0 881 4 0 1 0 0 3 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0005 0/0 881 4 4 0 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0006 0/0 881 3 1 1 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0007 0/0 881 2 0 0 2 0 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0008 0/0 881 1 0 0 0 0 1 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0009 0/0 881 1 0 0 0 0 1 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0010 0/0 881 1 0 0 1 0 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0011 0/0 881 1 1 0 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0012 0/0 881 1 0 0 0 0 1 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0013 0/0 881 1 1 0 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0014 0/0 881 1 1 0 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0015 0/0 881 1 1 0 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0016 0/0 882 1 0 0 1 0 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0017 0/0 881 1 0 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0018 0/0 881 1 1 0 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0019 0/0 881 1 1 0 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0020 0/0 881 1 1 0 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478

chapid grch38/
chm13v2
alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 2646 203 49 38 75 11 28 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0002 0/0 2646 34 0 0 33 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0003 0/0 2649 25 7 0 15 0 3 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0004 0/0 2646 5 5 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0005 0/0 2646 4 4 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0006 0/0 2646 4 0 1 0 0 3 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0007 0/0 2646 3 1 1 0 1 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0008 0/0 2646 3 3 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0009 0/0 2649 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0010 0/0 2646 2 2 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0011 0/0 2646 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0012 0/0 2649 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0013 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0014 0/0 2646 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0015 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0016 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0017 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0018 0/0 2646 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0019 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0020 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0021 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0022 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0023 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0024 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0025 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0026 0/0 2646 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0027 0/0 2646 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0028 0/0 2646 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0029 0/0 2646 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
c0030 0/0 2646 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478

thapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 1732 222 57 39 79 11 34 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
t0002 0/0 1732 29 0 0 28 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
t0003 0/0 1732 27 8 0 16 0 3 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
t0004 0/0 1732 8 8 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
t0005 0/0 1732 4 4 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
t0006 0/0 1732 3 0 0 3 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
t0007 0/0 1732 3 1 1 0 1 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
t0008 0/0 1732 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
t0009 0/0 1732 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
t0010 0/0 1732 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
t0011 0/0 1732 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
t0012 0/0 1732 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
t0013 0/0 1732 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
t0014 0/0 1732 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
t0015 0/0 1732 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478

ghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 1/0 41 3 6 22 4 5 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0002 0/1 21 3 6 3 4 4 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0003 0/0 17 0 0 17 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0004 0/0 13 0 0 11 0 2 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0005 0/0 10 5 4 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0006 0/0 9 0 1 8 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0007 0/0 7 0 0 7 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0008 0/0 4 4 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0009 0/0 4 0 0 4 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0010 0/0 4 4 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0011 0/0 4 3 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0012 0/0 3 3 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0013 0/0 3 0 0 3 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0014 0/0 3 3 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0015 0/0 3 3 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0016 0/0 3 1 1 0 1 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0017 0/0 3 3 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0018 0/0 3 0 0 0 0 3 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0019 0/0 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0020 0/0 2 0 0 1 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0021 0/0 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0022 0/0 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0023 0/0 2 2 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0024 0/0 2 1 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0025 0/0 2 0 0 0 0 2 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0026 0/0 2 0 2 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0027 0/0 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0028 0/0 2 0 2 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0029 0/0 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0030 0/0 2 0 1 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0031 0/0 2 0 0 0 0 2 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0032 0/0 2 2 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0033 0/0 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0034 0/0 2 0 1 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0035 0/0 2 2 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0036 0/0 2 2 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0037 0/0 2 0 0 0 0 2 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0038 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0039 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0040 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0041 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0042 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0043 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0044 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0045 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0046 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0047 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0048 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0049 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0050 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0051 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0052 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0053 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0054 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0055 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0056 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0057 0/0 1 0 0 0 1 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0058 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0059 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0060 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0061 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0062 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0063 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0064 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0065 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0066 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0067 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0068 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0069 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0070 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0071 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0072 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0073 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0074 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0075 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0076 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0077 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0078 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0079 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0080 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0081 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0082 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0083 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0084 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0085 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0086 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0087 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0088 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0089 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0090 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0091 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0092 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0093 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0094 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0095 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0096 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0097 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0098 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0099 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0100 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0101 0/0 1 0 0 0 1 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0102 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0103 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0104 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0105 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0106 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0107 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0108 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0109 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0110 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0111 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0112 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0113 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0114 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0115 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0116 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0117 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0118 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0119 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0120 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0121 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0122 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0123 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0124 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0125 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0126 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0127 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0128 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0129 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0130 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0131 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0132 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0133 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0134 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0135 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0136 0/0 1 0 0 0 1 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0137 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0138 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0139 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0140 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0141 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0142 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0143 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0144 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0145 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0146 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0147 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0148 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0149 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
g0150 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478

achapid grch38/
chm13v2
alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 2646 203 49 38 75 11 28 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0008 0/0 2646 3 3 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0018 0/0 2646 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0019 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0022 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0023 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0024 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0027 0/0 2646 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0002c0002 0/0 2646 34 0 0 33 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0002c0004 0/0 2646 5 5 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0002c0010 0/0 2646 2 2 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0003c0003 0/0 2649 25 7 0 15 0 3 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0003c0009 0/0 2649 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0004c0006 0/0 2646 4 0 1 0 0 3 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0005c0005 0/0 2646 4 4 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0006c0007 0/0 2646 3 1 1 0 1 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0007c0011 0/0 2646 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0008c0030 0/0 2646 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0009c0029 0/0 2646 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0010c0028 0/0 2646 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0011c0017 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0012c0026 0/0 2646 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0013c0025 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0014c0020 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0015c0021 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0016c0012 0/0 2649 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0017c0014 0/0 2646 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0018c0015 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0019c0016 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0020c0013 0/0 2646 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478

acthapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 1/1 4377 192 41 38 72 11 28 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0001t0004 0/0 4377 7 7 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0001t0009 0/0 4377 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0001t0012 0/0 4377 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0001t0013 0/0 4377 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0008t0001 0/0 4377 3 3 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0018t0001 0/0 4377 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0019t0015 0/0 4377 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0022t0003 0/0 4377 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0023t0001 0/0 4377 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0024t0001 0/0 4377 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0001c0027t0001 0/0 4377 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0002c0002t0002 0/0 4377 28 0 0 27 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0002c0002t0006 0/0 4377 3 0 0 3 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0002c0002t0008 0/0 4377 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0002c0002t0010 0/0 4377 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0002c0004t0001 0/0 4377 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0002c0004t0005 0/0 4377 4 4 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0002c0010t0001 0/0 4377 2 2 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0003c0003t0003 0/0 4380 25 7 0 15 0 3 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0003c0009t0001 0/0 4380 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0004c0006t0001 0/0 4377 4 0 1 0 0 3 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0005c0005t0001 0/0 4377 4 4 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0006c0007t0007 0/0 4377 3 1 1 0 1 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0007c0011t0001 0/0 4377 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0008c0030t0001 0/0 4377 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0009c0029t0001 0/0 4377 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0010c0028t0001 0/0 4377 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0011c0017t0004 0/0 4377 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0012c0026t0001 0/0 4377 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0013c0025t0001 0/0 4377 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0014c0020t0001 0/0 4377 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0015c0021t0001 0/0 4377 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0016c0012t0003 0/0 4380 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0017c0014t0002 0/0 4377 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0018c0015t0014 0/0 4377 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0019c0016t0001 0/0 4377 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478
a0020c0013t0011 0/0 4377 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 copy fasta chr12 113152173 113190478

actghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 1/0 41 3 6 22 4 5 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0002 0/1 21 3 6 3 4 4 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0005 0/0 10 5 4 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0006 0/0 9 0 1 8 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0007 0/0 7 0 0 7 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0009 0/0 4 0 0 4 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0011 0/0 4 3 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0013 0/0 3 0 0 3 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0014 0/0 3 3 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0015 0/0 3 3 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0016 0/0 3 1 1 0 1 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0017 0/0 3 3 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0024 0/0 2 1 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0025 0/0 2 0 0 0 0 2 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0026 0/0 2 0 2 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0028 0/0 2 0 2 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0029 0/0 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0030 0/0 2 0 1 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0031 0/0 2 0 0 0 0 2 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0033 0/0 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0034 0/0 2 0 1 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0036 0/0 2 2 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0037 0/0 2 0 0 0 0 2 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0071 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0072 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0073 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0074 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0075 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0076 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0077 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0078 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0080 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0081 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0082 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0083 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0084 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0085 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0086 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0088 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0089 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0090 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0091 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0092 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0094 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0095 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0096 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0097 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0098 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0099 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0101 0/0 1 0 0 0 1 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0103 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0104 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0105 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0106 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0107 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0109 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0111 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0113 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0114 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0115 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0117 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0118 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0119 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0120 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0121 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0122 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0123 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0128 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0129 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0134 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0135 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0136 0/0 1 0 0 0 1 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0137 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0139 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0140 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0141 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0143 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0144 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0145 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0146 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0147 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0001g0148 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0004g0010 0/0 4 4 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0004g0032 0/0 2 2 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0004g0125 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0009g0110 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0009g0126 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0012g0138 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0001t0013g0116 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0008t0001g0035 0/0 2 2 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0008t0001g0142 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0018t0001g0102 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0019t0015g0108 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0022t0003g0079 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0023t0001g0112 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0024t0001g0133 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0001c0027t0001g0124 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0002g0003 0/0 17 0 0 17 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0002g0019 0/0 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0002g0020 0/0 2 0 0 1 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0002g0039 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0002g0040 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0002g0041 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0002g0042 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0002g0043 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0002g0045 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0002g0046 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0006g0021 0/0 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0006g0038 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0008g0049 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0008g0050 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0002t0010g0051 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0004t0001g0054 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0004t0005g0023 0/0 2 2 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0004t0005g0069 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0004t0005g0070 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0010t0001g0052 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0002c0010t0001g0053 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0003c0003t0003g0004 0/0 13 0 0 11 0 2 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0003c0003t0003g0012 0/0 3 3 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0003c0003t0003g0047 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0003c0003t0003g0060 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0003c0003t0003g0061 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0003c0003t0003g0062 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0003c0003t0003g0064 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0003c0003t0003g0065 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0003c0003t0003g0066 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0003c0003t0003g0067 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0003c0003t0003g0068 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0003c0009t0001g0022 0/0 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0004c0006t0001g0018 0/0 3 0 0 0 0 3 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0004c0006t0001g0150 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0005c0005t0001g0008 0/0 4 4 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0006c0007t0007g0056 0/0 1 0 1 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0006c0007t0007g0057 0/0 1 0 0 0 1 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0006c0007t0007g0058 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0007c0011t0001g0027 0/0 2 0 0 2 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0008c0030t0001g0149 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0009c0029t0001g0132 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0010c0028t0001g0127 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0011c0017t0004g0093 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0012c0026t0001g0130 0/0 1 0 0 0 0 1 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0013c0025t0001g0100 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0014c0020t0001g0131 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0015c0021t0001g0087 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0016c0012t0003g0063 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0017c0014t0002g0044 0/0 1 0 0 1 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0018c0015t0014g0055 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0019c0016t0001g0059 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
a0020c0013t0011g0048 0/0 1 1 0 0 0 0 DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478

sampleid ID
haplotypeid
ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0001 c0001 t0001 g0136 EUR GBR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00140 hp2 a0001 c0001 t0001 g0002 EUR GBR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00280 hp1 a0001 c0001 t0001 g0101 EUR FIN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00280 hp2 a0006 c0007 t0007 g0057 EUR FIN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00323 hp1 a0001 c0001 t0001 g0001 EUR FIN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00323 hp2 a0001 c0001 t0001 g0016 EUR FIN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00408 hp1 a0017 c0014 t0002 g0044 EAS CHS DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00408 hp2 a0001 c0001 t0001 g0007 EAS CHS DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00438 hp1 a0001 c0001 t0001 g0001 EAS CHS DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00438 hp2 a0002 c0002 t0002 g0003 EAS CHS DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00558 hp1 a0007 c0011 t0001 g0027 EAS CHS DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00558 hp2 a0001 c0001 t0001 g0001 EAS CHS DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00735 hp1 a0001 c0001 t0001 g0109 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00735 hp2 a0001 c0001 t0001 g0002 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00738 hp1 a0001 c0001 t0001 g0001 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00738 hp2 a0001 c0001 t0001 g0028 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00741 hp1 a0001 c0001 t0001 g0028 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG00741 hp2 a0001 c0001 t0001 g0002 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01069 hp1 a0001 c0001 t0001 g0002 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01069 hp2 a0001 c0001 t0001 g0026 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01071 hp1 a0001 c0001 t0001 g0006 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01071 hp2 a0001 c0001 t0001 g0026 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01099 hp1 a0004 c0006 t0001 g0150 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01099 hp2 a0001 c0001 t0001 g0005 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01109 hp1 a0001 c0001 t0001 g0011 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01109 hp2 a0001 c0001 t0001 g0086 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01168 hp1 a0001 c0001 t0001 g0005 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01168 hp2 a0006 c0007 t0007 g0056 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01192 hp1 a0001 c0001 t0001 g0001 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01192 hp2 a0001 c0001 t0001 g0002 AMR PUR DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01257 hp1 a0001 c0001 t0001 g0118 AMR CLM DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01257 hp2 a0001 c0001 t0001 g0030 AMR CLM DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01346 hp1 a0001 c0001 t0001 g0073 AMR CLM DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01346 hp2 a0001 c0001 t0001 g0016 AMR CLM DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01361 hp1 a0001 c0001 t0001 g0141 AMR CLM DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01361 hp2 a0001 c0001 t0001 g0005 AMR CLM DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01496 hp1 a0001 c0001 t0001 g0001 AMR CLM DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01496 hp2 a0001 c0001 t0001 g0105 AMR CLM DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01515 hp1 a0001 c0001 t0001 g0001 EUR IBS DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01515 hp2 a0001 c0001 t0001 g0002 EUR IBS DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01517 hp1 a0001 c0001 t0001 g0002 EUR IBS DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01517 hp2 a0001 c0001 t0001 g0001 EUR IBS DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01891 hp1 a0002 c0004 t0001 g0054 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01891 hp2 a0001 c0001 t0001 g0014 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01928 hp1 a0001 c0001 t0001 g0107 AMR PEL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01928 hp2 a0001 c0001 t0001 g0024 AMR PEL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01943 hp1 a0001 c0001 t0001 g0001 AMR PEL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01943 hp2 a0001 c0001 t0001 g0034 AMR PEL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01978 hp1 a0001 c0001 t0001 g0099 AMR PEL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01978 hp2 a0001 c0001 t0001 g0005 AMR PEL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01993 hp1 a0001 c0001 t0001 g0001 AMR PEL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG01993 hp2 a0001 c0001 t0001 g0117 AMR PEL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02055 hp1 a0002 c0010 t0001 g0052 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02055 hp2 a0011 c0017 t0004 g0093 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02056 hp1 a0001 c0001 t0001 g0113 EAS KHV DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02056 hp2 a0001 c0001 t0001 g0002 EAS KHV DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02071 hp1 a0002 c0002 t0002 g0042 EAS KHV DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02071 hp2 a0001 c0001 t0001 g0033 EAS KHV DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02080 hp1 a0003 c0003 t0003 g0004 EAS KHV DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02080 hp2 a0001 c0001 t0001 g0082 EAS KHV DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02135 hp1 a0001 c0001 t0001 g0114 EAS KHV DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02135 hp2 a0001 c0001 t0001 g0033 EAS KHV DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02145 hp1 a0001 c0001 t0001 g0095 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02145 hp2 a0001 c0001 t0001 g0017 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02148 hp1 a0001 c0001 t0001 g0002 AMR PEL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02148 hp2 a0001 c0001 t0001 g0096 AMR PEL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02155 hp1 a0003 c0003 t0003 g0066 EAS CDX DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02155 hp2 a0002 c0002 t0002 g0003 EAS CDX DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02165 hp1 a0001 c0001 t0001 g0001 EAS CDX DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02165 hp2 a0001 c0018 t0001 g0102 EAS CDX DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02257 hp1 a0014 c0020 t0001 g0131 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02257 hp2 a0001 c0001 t0004 g0010 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02258 hp1 a0005 c0005 t0001 g0008 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02258 hp2 a0001 c0001 t0001 g0002 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02273 hp1 a0001 c0001 t0001 g0119 AMR PEL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02273 hp2 a0001 c0001 t0001 g0001 AMR PEL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02280 hp1 a0003 c0003 t0003 g0068 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02280 hp2 a0005 c0005 t0001 g0008 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02293 hp1 a0001 c0001 t0001 g0002 AMR PEL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02293 hp2 a0001 c0001 t0001 g0111 AMR PEL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02451 hp1 a0003 c0003 t0003 g0012 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02451 hp2 a0001 c0001 t0001 g0016 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02523 hp1 a0001 c0001 t0001 g0001 EAS KHV DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02523 hp2 a0001 c0001 t0009 g0126 EAS KHV DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02572 hp1 a0001 c0001 t0001 g0001 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02572 hp2 a0001 c0001 t0001 g0089 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02602 hp1 a0001 c0001 t0001 g0078 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02602 hp2 a0004 c0006 t0001 g0018 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02615 hp1 a0019 c0016 t0001 g0059 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02615 hp2 a0001 c0001 t0001 g0001 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02622 hp1 a0001 c0001 t0001 g0129 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02622 hp2 a0001 c0022 t0003 g0079 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02630 hp1 a0001 c0001 t0001 g0015 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02630 hp2 a0001 c0001 t0001 g0002 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02647 hp1 a0005 c0005 t0001 g0008 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02647 hp2 a0001 c0001 t0001 g0088 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02683 hp1 a0001 c0001 t0001 g0147 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02683 hp2 a0001 c0001 t0001 g0104 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02698 hp1 a0001 c0001 t0001 g0001 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02698 hp2 a0003 c0003 t0003 g0004 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02717 hp1 a0001 c0001 t0001 g0081 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02717 hp2 a0002 c0004 t0005 g0023 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02723 hp1 a0001 c0001 t0001 g0001 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02723 hp2 a0001 c0024 t0001 g0133 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02735 hp1 a0001 c0001 t0001 g0090 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02735 hp2 a0001 c0001 t0001 g0034 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02738 hp1 a0001 c0001 t0001 g0148 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02738 hp2 a0001 c0001 t0001 g0115 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02809 hp1 a0001 c0001 t0001 g0036 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02809 hp2 a0003 c0003 t0003 g0012 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02818 hp1 a0001 c0001 t0004 g0010 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02818 hp2 a0013 c0025 t0001 g0100 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02886 hp1 a0001 c0001 t0001 g0036 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02886 hp2 a0001 c0001 t0001 g0015 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02896 hp1 a0001 c0001 t0004 g0032 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02896 hp2 a0001 c0001 t0001 g0094 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02897 hp1 a0001 c0001 t0004 g0032 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02897 hp2 a0001 c0001 t0001 g0144 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02965 hp1 a0001 c0001 t0001 g0005 AFR ESN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02965 hp2 a0001 c0001 t0001 g0139 AFR ESN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02970 hp1 a0003 c0003 t0003 g0012 AFR ESN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02970 hp2 a0001 c0001 t0001 g0005 AFR ESN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02976 hp1 a0001 c0001 t0001 g0005 AFR ESN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02976 hp2 a0001 c0001 t0001 g0014 AFR ESN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03041 hp1 a0001 c0001 t0001 g0017 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03041 hp2 a0001 c0001 t0004 g0010 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03098 hp1 a0001 c0001 t0004 g0010 AFR MSL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03098 hp2 a0003 c0003 t0003 g0061 AFR MSL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03130 hp1 a0003 c0003 t0003 g0062 AFR ESN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03130 hp2 a0001 c0001 t0012 g0138 AFR ESN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03139 hp1 a0001 c0001 t0001 g0134 AFR ESN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03139 hp2 a0001 c0001 t0001 g0106 AFR ESN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03195 hp1 a0001 c0001 t0001 g0002 AFR ESN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03195 hp2 a0002 c0004 t0005 g0023 AFR ESN DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03209 hp1 a0018 c0015 t0014 g0055 AFR MSL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03209 hp2 a0001 c0001 t0001 g0011 AFR MSL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03225 hp1 a0001 c0001 t0001 g0015 AFR MSL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03225 hp2 a0015 c0021 t0001 g0087 AFR MSL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03453 hp1 a0001 c0001 t0001 g0011 AFR MSL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03453 hp2 a0005 c0005 t0001 g0008 AFR MSL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03486 hp1 a0002 c0004 t0005 g0070 AFR MSL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03486 hp2 a0001 c0008 t0001 g0035 AFR MSL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03491 hp1 a0001 c0001 t0001 g0097 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03491 hp2 a0001 c0001 t0001 g0135 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03540 hp1 a0003 c0003 t0003 g0060 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03540 hp2 a0001 c0001 t0001 g0011 AFR GWD DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03579 hp1 a0001 c0001 t0001 g0122 AFR MSL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03579 hp2 a0001 c0001 t0001 g0128 AFR MSL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03654 hp1 a0012 c0026 t0001 g0130 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03654 hp2 a0001 c0001 t0001 g0002 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03669 hp1 a0001 c0001 t0001 g0031 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03669 hp2 a0001 c0001 t0001 g0002 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03688 hp1 a0001 c0001 t0001 g0037 SAS STU DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03688 hp2 a0001 c0001 t0001 g0146 SAS STU DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03710 hp1 a0003 c0003 t0003 g0004 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03710 hp2 a0001 c0001 t0001 g0025 SAS PJL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03831 hp1 a0003 c0003 t0003 g0047 SAS BEB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03831 hp2 a0001 c0001 t0001 g0025 SAS BEB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03834 hp1 a0001 c0001 t0001 g0091 SAS BEB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03834 hp2 a0001 c0001 t0001 g0001 SAS BEB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03927 hp1 a0001 c0001 t0001 g0037 SAS BEB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03927 hp2 a0001 c0001 t0001 g0001 SAS BEB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03942 hp1 a0001 c0001 t0001 g0005 SAS BEB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03942 hp2 a0001 c0001 t0001 g0031 SAS BEB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG04115 hp1 a0004 c0006 t0001 g0018 SAS STU DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG04115 hp2 a0002 c0002 t0002 g0020 SAS STU DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG04184 hp1 a0001 c0001 t0001 g0085 SAS BEB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG04184 hp2 a0008 c0030 t0001 g0149 SAS BEB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG04199 hp1 a0001 c0001 t0001 g0001 SAS STU DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG04199 hp2 a0009 c0029 t0001 g0132 SAS STU DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG04204 hp1 a0001 c0001 t0001 g0001 SAS STU DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG04204 hp2 a0001 c0001 t0001 g0002 SAS STU DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18612 hp1 a0001 c0001 t0001 g0001 EAS CHB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18612 hp2 a0001 c0001 t0001 g0009 EAS CHB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18906 hp1 a0001 c0001 t0001 g0014 AFR YRI DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18906 hp2 a0001 c0001 t0001 g0017 AFR YRI DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18939 hp1 a0001 c0001 t0001 g0007 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18939 hp2 a0001 c0001 t0001 g0013 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18941 hp1 a0001 c0001 t0001 g0098 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18941 hp2 a0001 c0001 t0001 g0029 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18942 hp1 a0003 c0003 t0003 g0004 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18942 hp2 a0001 c0001 t0001 g0077 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18943 hp1 a0003 c0003 t0003 g0004 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18943 hp2 a0001 c0001 t0001 g0006 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18945 hp1 a0003 c0003 t0003 g0004 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18945 hp2 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18946 hp1 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18946 hp2 a0003 c0009 t0001 g0022 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18947 hp1 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18947 hp2 a0003 c0003 t0003 g0004 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18948 hp1 a0002 c0002 t0002 g0041 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18948 hp2 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18950 hp1 a0001 c0001 t0001 g0006 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18950 hp2 a0001 c0001 t0001 g0137 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18951 hp1 a0001 c0001 t0001 g0006 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18951 hp2 a0002 c0002 t0002 g0045 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18954 hp1 a0001 c0001 t0001 g0080 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18954 hp2 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18956 hp1 a0001 c0001 t0001 g0006 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18956 hp2 a0001 c0001 t0001 g0007 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18957 hp1 a0001 c0001 t0001 g0013 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18957 hp2 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18960 hp1 a0001 c0001 t0001 g0030 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18960 hp2 a0002 c0002 t0008 g0049 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18962 hp1 a0002 c0002 t0006 g0021 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18962 hp2 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18968 hp1 a0002 c0002 t0010 g0051 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18968 hp2 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18969 hp1 a0003 c0003 t0003 g0004 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18969 hp2 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18971 hp1 a0001 c0001 t0009 g0110 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18971 hp2 a0001 c0001 t0001 g0002 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18972 hp1 a0002 c0002 t0002 g0019 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18972 hp2 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18974 hp1 a0007 c0011 t0001 g0027 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18974 hp2 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18975 hp1 a0003 c0003 t0003 g0004 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18975 hp2 a0001 c0001 t0001 g0013 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18979 hp1 a0001 c0001 t0001 g0071 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18979 hp2 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18980 hp1 a0001 c0001 t0001 g0145 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18980 hp2 a0001 c0001 t0001 g0002 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18982 hp1 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18982 hp2 a0001 c0001 t0001 g0140 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18984 hp1 a0002 c0002 t0002 g0019 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18984 hp2 a0001 c0001 t0001 g0075 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18990 hp1 a0001 c0001 t0001 g0006 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18990 hp2 a0003 c0003 t0003 g0065 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18994 hp1 a0003 c0003 t0003 g0064 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18994 hp2 a0001 c0001 t0001 g0006 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18998 hp1 a0002 c0002 t0002 g0043 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA18998 hp2 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19000 hp1 a0001 c0001 t0001 g0072 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19000 hp2 a0001 c0001 t0001 g0103 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19002 hp1 a0001 c0001 t0001 g0123 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19002 hp2 a0003 c0003 t0003 g0004 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19003 hp1 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19003 hp2 a0003 c0009 t0001 g0022 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19005 hp1 a0003 c0003 t0003 g0004 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19005 hp2 a0001 c0001 t0001 g0006 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19006 hp1 a0002 c0002 t0002 g0046 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19006 hp2 a0001 c0001 t0001 g0006 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19007 hp1 a0001 c0027 t0001 g0124 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19007 hp2 a0001 c0001 t0001 g0007 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19009 hp1 a0001 c0001 t0001 g0084 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19009 hp2 a0001 c0001 t0001 g0009 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19010 hp1 a0001 c0001 t0001 g0007 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19010 hp2 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19011 hp1 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19011 hp2 a0001 c0001 t0001 g0009 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19012 hp1 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19012 hp2 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19043 hp1 a0001 c0001 t0001 g0092 AFR LWK DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19043 hp2 a0020 c0013 t0011 g0048 AFR LWK DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19063 hp1 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19063 hp2 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19064 hp1 a0001 c0001 t0001 g0007 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19064 hp2 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19065 hp1 a0002 c0002 t0008 g0050 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19065 hp2 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19066 hp1 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19066 hp2 a0003 c0003 t0003 g0004 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19067 hp1 a0001 c0001 t0001 g0007 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19067 hp2 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19070 hp1 a0002 c0002 t0002 g0020 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19070 hp2 a0001 c0001 t0001 g0120 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19072 hp1 a0001 c0001 t0001 g0029 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19072 hp2 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19074 hp1 a0002 c0002 t0002 g0039 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19074 hp2 a0001 c0001 t0001 g0074 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19075 hp1 a0002 c0002 t0006 g0038 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19075 hp2 a0001 c0001 t0013 g0116 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19079 hp1 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19079 hp2 a0002 c0002 t0006 g0021 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19080 hp1 a0001 c0001 t0001 g0076 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19080 hp2 a0001 c0001 t0001 g0121 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19081 hp1 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19081 hp2 a0003 c0003 t0003 g0067 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19082 hp1 a0003 c0003 t0003 g0004 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19082 hp2 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19083 hp1 a0002 c0002 t0002 g0040 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19083 hp2 a0001 c0001 t0001 g0083 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19085 hp1 a0002 c0002 t0002 g0003 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19085 hp2 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19088 hp1 a0001 c0001 t0001 g0001 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19088 hp2 a0010 c0028 t0001 g0127 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19090 hp1 a0001 c0001 t0001 g0009 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA19090 hp2 a0016 c0012 t0003 g0063 EAS JPT DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA20129 hp1 a0001 c0008 t0001 g0142 AFR ASW DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA20129 hp2 a0001 c0001 t0001 g0005 AFR ASW DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA20752 hp1 a0001 c0001 t0001 g0001 EUR TSI DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA20752 hp2 a0001 c0001 t0001 g0002 EUR TSI DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA20905 hp1 a0001 c0001 t0001 g0002 SAS GIH DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA20905 hp2 a0004 c0006 t0001 g0018 SAS GIH DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02109 hp1 a0001 c0001 t0004 g0125 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02109 hp2 a0001 c0001 t0001 g0005 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02559 hp1 a0002 c0004 t0005 g0069 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG02559 hp2 a0002 c0010 t0001 g0053 AFR ACB DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03471 hp1 a0001 c0001 t0001 g0143 AFR MSL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG03471 hp2 a0001 c0008 t0001 g0035 AFR MSL DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG06807 hp1 a0006 c0007 t0007 g0058 AFR USA DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
HG06807 hp2 a0001 c0023 t0001 g0112 AFR USA DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA20300 hp1 a0001 c0001 t0001 g0024 AFR USA DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
NA20300 hp2 a0001 c0019 t0015 g0108 AFR USA DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0002 REF REF DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478
homoSapiens_grch38 hp1 a0001 c0001 t0001 g0001 REF REF DDX54_chr12_113152173_113190478 DDX54 chr12 113152173 113190478

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
chr12:113158953 C
C
T
T
1 a0015
a0015
1 HG03225.hp2
HG03225.hp2
missense_variant MODERATE c.2570G>A
c.2570G>A
p.Arg857His
p.Arg857His
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 2597/4377 2570/2646 857/881 chr12 113158953
chr12:113159061 G
G
A
A
1 a0006
a0006
3 HG00280.hp2
HG01168.hp2
HG06807.hp1
HG00280.hp2
HG01168.hp2
HG06807.hp1
missense_variant MODERATE c.2462C>T
c.2462C>T
p.Pro821Leu
p.Pro821Leu
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 2489/4377 2462/2646 821/881 chr12 113159061
chr12:113161276 C
C
T
T
1 a0005
a0005
4 HG02258.hp1
HG02280.hp2
HG02647.hp1
others(1): Show 
HG02258.hp1
HG02280.hp2
HG02647.hp1
HG03453.hp2
missense_variant MODERATE c.2407G>A
c.2407G>A
p.Gly803Ser
p.Gly803Ser
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/20 2434/4377 2407/2646 803/881 chr12 113161276
chr12:113161299 C
C
G
G
1 a0018
a0018
1 HG03209.hp1
HG03209.hp1
missense_variant MODERATE c.2384G>C
c.2384G>C
p.Arg795Pro
p.Arg795Pro
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/20 2411/4377 2384/2646 795/881 chr12 113161299
chr12:113162961 G
G
C
C
1 a0019
a0019
1 HG02615.hp1
HG02615.hp1
missense_variant MODERATE c.2166C>G
c.2166C>G
p.Asn722Lys
p.Asn722Lys
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/20 2193/4377 2166/2646 722/881 chr12 113162961
chr12:113163022 C
C
T
T
1 a0014
a0014
1 HG02257.hp1
HG02257.hp1
missense_variant MODERATE c.2105G>A
c.2105G>A
p.Gly702Glu
p.Gly702Glu
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/20 2132/4377 2105/2646 702/881 chr12 113163022
chr12:113163135 C
C
T
T
2 a0006
a0018
a0006
a0018
4 HG00280.hp2
HG01168.hp2
HG03209.hp1
others(1): Show 
HG00280.hp2
HG01168.hp2
HG03209.hp1
HG06807.hp1
missense_variant MODERATE c.2078G>A
c.2078G>A
p.Arg693Gln
p.Arg693Gln
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 16/20 2105/4377 2078/2646 693/881 chr12 113163135
chr12:113165876 G
G
A
A
1 a0013
a0013
1 HG02818.hp2
HG02818.hp2
missense_variant MODERATE c.1571C>T
c.1571C>T
p.Pro524Leu
p.Pro524Leu
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 13/20 1598/4377 1571/2646 524/881 chr12 113165876
chr12:113174650 T
T
C
C
1 a0012
a0012
1 HG03654.hp1
HG03654.hp1
missense_variant MODERATE c.1058A>G
c.1058A>G
p.Tyr353Cys
p.Tyr353Cys
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/20 1085/4377 1058/2646 353/881 chr12 113174650
chr12:113174732 C
C
T
T
1 a0017
a0017
1 HG00408.hp1
HG00408.hp1
missense_variant MODERATE c.976G>A
c.976G>A
p.Val326Met
p.Val326Met
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/20 1003/4377 976/2646 326/881 chr12 113174732
chr12:113175054 C
C
T
T
1 a0020
a0020
1 NA19043.hp2
NA19043.hp2
missense_variant MODERATE c.856G>A
c.856G>A
p.Val286Met
p.Val286Met
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 8/20 883/4377 856/2646 286/881 chr12 113175054
chr12:113179949 G
G
T
T
1 a0016
a0016
1 NA19090.hp2
NA19090.hp2
missense_variant MODERATE c.361C>A
c.361C>A
p.Pro121Thr
p.Pro121Thr
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 3/20 388/4377 361/2646 121/881 chr12 113179949
chr12:113179981 C
C
T
T
1 a0011
a0011
1 HG02055.hp2
HG02055.hp2
missense_variant MODERATE c.329G>A
c.329G>A
p.Gly110Asp
p.Gly110Asp
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 3/20 356/4377 329/2646 110/881 chr12 113179981
chr12:113179999 C
C
G
G
1 a0020
a0020
1 NA19043.hp2
NA19043.hp2
missense_variant MODERATE c.311G>C
c.311G>C
p.Ser104Thr
p.Ser104Thr
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 3/20 338/4377 311/2646 104/881 chr12 113179999
chr12:113180936 C
C
A
A
1 a0010
a0010
1 NA19088.hp2
NA19088.hp2
missense_variant MODERATE c.297G>T
c.297G>T
p.Gln99His
p.Gln99His
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 2/20 324/4377 297/2646 99/881 chr12 113180936
chr12:113180950 A
A
ACTT
ACTT
2 a0003
a0016
a0003
a0016
28 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(25): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
conservative_inframe_insertion MODERATE c.280_282dupAAG
c.280_282dupAAG
p.Lys94dup
p.Lys94dup
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 2/20 309/4377 282/2646 94/881 chr12 113180950
chr12:113180976 C
C
T
T
1 a0007
a0007
2 HG00558.hp1
NA18974.hp1
HG00558.hp1
NA18974.hp1
missense_variant MODERATE c.257G>A
c.257G>A
p.Arg86His
p.Arg86His
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 2/20 284/4377 257/2646 86/881 chr12 113180976
chr12:113181009 G
G
A
A
1 a0009
a0009
1 HG04199.hp2
HG04199.hp2
missense_variant MODERATE c.224C>T
c.224C>T
p.Ser75Leu
p.Ser75Leu
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 2/20 251/4377 224/2646 75/881 chr12 113181009
chr12:113185361 C
C
A
A
1 a0008
a0008
1 HG04184.hp2
HG04184.hp2
missense_variant MODERATE c.91G>T
c.91G>T
p.Gly31Cys
p.Gly31Cys
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/20 118/4377 91/2646 31/881 chr12 113185361
chr12:113185412 G
G
C
C
1 a0004
a0004
4 HG01099.hp1
HG02602.hp2
HG04115.hp1
others(1): Show 
HG01099.hp1
HG02602.hp2
HG04115.hp1
NA20905.hp2
missense_variant MODERATE c.40C>G
c.40C>G
p.Arg14Gly
p.Arg14Gly
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/20 67/4377 40/2646 14/881 chr12 113185412
chr12:113185436 C
C
G
G
8 a0002
a0003
a0006
others(5): Show 
a0002
a0003
a0006
a0016
a0017
a0018
a0019
a0020
76 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(73): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG01891.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
missense_variant MODERATE c.16G>C
c.16G>C
p.Gly6Arg
p.Gly6Arg
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/20 43/4377 16/2646 6/881 chr12 113185436

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
chr12:113158931 G
G
A
A
3 a0001c0022
a0003c0003
a0016c0012
a0001c0022
a0003c0003
a0016c0012
27 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(24): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
synonymous_variant LOW c.2592C>T
c.2592C>T
p.Gly864Gly
p.Gly864Gly
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 2619/4377 2592/2646 864/881 chr12 113158931
chr12:113161340 G
G
A
A
1 a0001c0023
a0001c0023
1 HG06807.hp2
HG06807.hp2
synonymous_variant LOW c.2343C>T
c.2343C>T
p.Asp781Asp
p.Asp781Asp
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/20 2370/4377 2343/2646 781/881 chr12 113161340
chr12:113164283 A
A
G
G
1 a0001c0019
a0001c0019
1 NA20300.hp2
NA20300.hp2
splice_region_variant&synonymous_variant LOW c.1722T>C
c.1722T>C
p.Thr574Thr
p.Thr574Thr
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 15/20 1749/4377 1722/2646 574/881 chr12 113164283
chr12:113165809 G
G
C
C
1 a0001c0024
a0001c0024
1 HG02723.hp2
HG02723.hp2
synonymous_variant LOW c.1638C>G
c.1638C>G
p.Pro546Pro
p.Pro546Pro
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 13/20 1665/4377 1638/2646 546/881 chr12 113165809
chr12:113172489 G
G
A
A
3 a0002c0002
a0017c0014
a0020c0013
a0002c0002
a0017c0014
a0020c0013
36 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(33): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02155.hp2
HG04115.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18998.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19083.hp1
NA19085.hp1
synonymous_variant LOW c.1143C>T
c.1143C>T
p.Leu381Leu
p.Leu381Leu
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/20 1170/4377 1143/2646 381/881 chr12 113172489
chr12:113172519 G
G
A
A
2 a0001c0008
a0002c0010
a0001c0008
a0002c0010
5 HG02055.hp1
HG02559.hp2
HG03471.hp2
others(2): Show 
HG02055.hp1
HG02559.hp2
HG03471.hp2
HG03486.hp2
NA20129.hp1
synonymous_variant LOW c.1113C>T
c.1113C>T
p.Ala371Ala
p.Ala371Ala
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/20 1140/4377 1113/2646 371/881 chr12 113172519
chr12:113172552 G
G
T
T
1 a0001c0018
a0001c0018
1 HG02165.hp2
HG02165.hp2
synonymous_variant LOW c.1080C>A
c.1080C>A
p.Thr360Thr
p.Thr360Thr
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/20 1107/4377 1080/2646 360/881 chr12 113172552
chr12:113176863 G
G
A
A
1 a0001c0027
a0001c0027
1 NA19007.hp1
NA19007.hp1
synonymous_variant LOW c.729C>T
c.729C>T
p.Tyr243Tyr
p.Tyr243Tyr
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/20 756/4377 729/2646 243/881 chr12 113176863

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
chr12:113157245 G
G
A
A
1 a0001c0001t0009
a0001c0001t0009
2 HG02523.hp2
NA18971.hp1
HG02523.hp2
NA18971.hp1
3_prime_UTR_variant MODIFIER c.*1632C>T
c.*1632C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 1632 chr12 113157245
chr12:113157266 A
A
T
T
1 a0001c0001t0012
a0001c0001t0012
1 HG03130.hp2
HG03130.hp2
3_prime_UTR_variant MODIFIER c.*1611T>A
c.*1611T>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 1611 chr12 113157266
chr12:113157285 A
A
G
G
1 a0002c0002t0006
a0002c0002t0006
3 NA18962.hp1
NA19075.hp1
NA19079.hp2
NA18962.hp1
NA19075.hp1
NA19079.hp2
3_prime_UTR_variant MODIFIER c.*1592T>C
c.*1592T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 1592 chr12 113157285
chr12:113157404 A
A
G
G
1 a0001c0001t0013
a0001c0001t0013
1 NA19075.hp2
NA19075.hp2
3_prime_UTR_variant MODIFIER c.*1473T>C
c.*1473T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 1473 chr12 113157404
chr12:113157406 G
G
T
T
1 a0001c0001t0013
a0001c0001t0013
1 NA19075.hp2
NA19075.hp2
3_prime_UTR_variant MODIFIER c.*1471C>A
c.*1471C>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 1471 chr12 113157406
chr12:113157408 T
T
G
G
1 a0001c0001t0013
a0001c0001t0013
1 NA19075.hp2
NA19075.hp2
3_prime_UTR_variant MODIFIER c.*1469A>C
c.*1469A>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 1469 chr12 113157408
chr12:113157516 C
C
G
G
1 a0002c0004t0005
a0002c0004t0005
4 HG02559.hp1
HG02717.hp2
HG03195.hp2
others(1): Show 
HG02559.hp1
HG02717.hp2
HG03195.hp2
HG03486.hp1
3_prime_UTR_variant MODIFIER c.*1361G>C
c.*1361G>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 1361 chr12 113157516
chr12:113157521 C
C
T
T
1 a0006c0007t0007
a0006c0007t0007
3 HG00280.hp2
HG01168.hp2
HG06807.hp1
HG00280.hp2
HG01168.hp2
HG06807.hp1
3_prime_UTR_variant MODIFIER c.*1356G>A
c.*1356G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 1356 chr12 113157521
chr12:113157532 G
G
A
A
1 a0002c0002t0010
a0002c0002t0010
1 NA18968.hp1
NA18968.hp1
3_prime_UTR_variant MODIFIER c.*1345C>T
c.*1345C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 1345 chr12 113157532
chr12:113157739 C
C
T
T
2 a0002c0002t0008
a0002c0002t0010
a0002c0002t0008
a0002c0002t0010
3 NA18960.hp2
NA18968.hp1
NA19065.hp1
NA18960.hp2
NA18968.hp1
NA19065.hp1
3_prime_UTR_variant MODIFIER c.*1138G>A
c.*1138G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 1138 chr12 113157739
chr12:113157887 G
G
A
A
3 a0001c0022t0003
a0003c0003t0003
a0016c0012t0003
a0001c0022t0003
a0003c0003t0003
a0016c0012t0003
27 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(24): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
3_prime_UTR_variant MODIFIER c.*990C>T
c.*990C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 990 chr12 113157887
chr12:113157897 G
G
A
A
2 a0001c0001t0004
a0011c0017t0004
a0001c0001t0004
a0011c0017t0004
8 HG02055.hp2
HG02109.hp1
HG02257.hp2
others(5): Show 
HG02055.hp2
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
3_prime_UTR_variant MODIFIER c.*980C>T
c.*980C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 980 chr12 113157897
chr12:113157913 T
T
C
C
1 a0018c0015t0014
a0018c0015t0014
1 HG03209.hp1
HG03209.hp1
3_prime_UTR_variant MODIFIER c.*964A>G
c.*964A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 964 chr12 113157913
chr12:113158204 T
T
C
C
9 a0001c0022t0003
a0002c0002t0002
a0002c0002t0006
others(6): Show 
a0001c0022t0003
a0002c0002t0002
a0002c0002t0006
a0002c0002t0008
a0002c0002t0010
a0003c0003t0003
a0016c0012t0003
a0017c0014t0002
a0020c0013t0011
63 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(60): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
3_prime_UTR_variant MODIFIER c.*673A>G
c.*673A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 673 chr12 113158204
chr12:113158236 C
C
T
T
9 a0001c0022t0003
a0002c0002t0002
a0002c0002t0006
others(6): Show 
a0001c0022t0003
a0002c0002t0002
a0002c0002t0006
a0002c0002t0008
a0002c0002t0010
a0003c0003t0003
a0016c0012t0003
a0017c0014t0002
a0020c0013t0011
63 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(60): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
3_prime_UTR_variant MODIFIER c.*641G>A
c.*641G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 641 chr12 113158236
chr12:113158272 C
C
A
A
1 a0001c0019t0015
a0001c0019t0015
1 NA20300.hp2
NA20300.hp2
3_prime_UTR_variant MODIFIER c.*605G>T
c.*605G>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 20/20 605 chr12 113158272
chr12:113185463 G
G
T
T
3 a0002c0002t0002
a0002c0002t0006
a0017c0014t0002
a0002c0002t0002
a0002c0002t0006
a0017c0014t0002
32 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(29): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02155.hp2
HG04115.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18998.hp1
NA19006.hp1
NA19012.hp2
NA19063.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19083.hp1
NA19085.hp1
5_prime_UTR_variant MODIFIER c.-12C>A
c.-12C>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/20 12 chr12 113185463

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
chr12:113159162 C
C
T
T
3 a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
4 HG02559.hp1
HG02717.hp2
HG03195.hp2
others(1): Show 
HG02559.hp1
HG02717.hp2
HG03195.hp2
HG03486.hp1
intron_variant MODIFIER c.2414-53G>A
c.2414-53G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113159162
chr12:113159233 T
T
C
C
1 a0001c0001t0004g0032
a0001c0001t0004g0032
2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
intron_variant MODIFIER c.2414-124A>G
c.2414-124A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113159233
chr12:113159238 G
G
C
C
1 a0001c0001t0001g0129
a0001c0001t0001g0129
1 HG02622.hp1
HG02622.hp1
intron_variant MODIFIER c.2414-129C>G
c.2414-129C>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113159238
chr12:113159475 A
A
C
C
1 a0001c0001t0013g0116
a0001c0001t0013g0116
1 NA19075.hp2
NA19075.hp2
intron_variant MODIFIER c.2414-366T>G
c.2414-366T>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113159475
chr12:113159811 C
C
T
T
30 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(27): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0016c0012t0003g0063
a0017c0014t0002g0044
a0020c0013t0011g0048
63 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(60): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.2414-702G>A
c.2414-702G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113159811
chr12:113159815 G
G
A
A
1 a0001c0001t0001g0111
a0001c0001t0001g0111
1 HG02293.hp2
HG02293.hp2
intron_variant MODIFIER c.2414-706C>T
c.2414-706C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113159815
chr12:113160022 C
C
T
T
3 a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
4 HG02559.hp1
HG02717.hp2
HG03195.hp2
others(1): Show 
HG02559.hp1
HG02717.hp2
HG03195.hp2
HG03486.hp1
intron_variant MODIFIER c.2414-913G>A
c.2414-913G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113160022
chr12:113160228 C
C
T
T
1 a0002c0004t0001g0054
a0002c0004t0001g0054
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.2413+1042G>A
c.2413+1042G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113160228
chr12:113160259 G
G
A
A
3 a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
3 NA18960.hp2
NA18968.hp1
NA19065.hp1
NA18960.hp2
NA18968.hp1
NA19065.hp1
intron_variant MODIFIER c.2413+1011C>T
c.2413+1011C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113160259
chr12:113160556 C
C
G
G
1 a0002c0002t0002g0043
a0002c0002t0002g0043
1 NA18998.hp1
NA18998.hp1
intron_variant MODIFIER c.2413+714G>C
c.2413+714G>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113160556
chr12:113160710 C
C
T
T
1 a0001c0001t0001g0036
a0001c0001t0001g0036
2 HG02809.hp1
HG02886.hp1
HG02809.hp1
HG02886.hp1
intron_variant MODIFIER c.2413+560G>A
c.2413+560G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113160710
chr12:113160879 T
T
C
C
47 a0001c0001t0001g0036
a0001c0001t0001g0088
a0001c0001t0001g0089
others(44): Show 
a0001c0001t0001g0036
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0008t0001g0035
a0001c0008t0001g0142
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0010t0001g0052
a0002c0010t0001g0053
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0015c0021t0001g0087
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
84 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(81): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
NA20129.hp1
intron_variant MODIFIER c.2413+391A>G
c.2413+391A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113160879
chr12:113160884 A
A
G
G
1 a0015c0021t0001g0087
a0015c0021t0001g0087
1 HG03225.hp2
HG03225.hp2
intron_variant MODIFIER c.2413+386T>C
c.2413+386T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113160884
chr12:113160935 G
G
A
A
2 a0004c0006t0001g0018
a0004c0006t0001g0150
a0004c0006t0001g0018
a0004c0006t0001g0150
4 HG01099.hp1
HG02602.hp2
HG04115.hp1
others(1): Show 
HG01099.hp1
HG02602.hp2
HG04115.hp1
NA20905.hp2
intron_variant MODIFIER c.2413+335C>T
c.2413+335C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113160935
chr12:113160966 G
G
A
A
3 a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
4 HG02559.hp1
HG02717.hp2
HG03195.hp2
others(1): Show 
HG02559.hp1
HG02717.hp2
HG03195.hp2
HG03486.hp1
intron_variant MODIFIER c.2413+304C>T
c.2413+304C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 19/19 chr12 113160966
chr12:113161529 G
G
A
A
1 a0019c0016t0001g0059
a0019c0016t0001g0059
1 HG02615.hp1
HG02615.hp1
intron_variant MODIFIER c.2301-147C>T
c.2301-147C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 18/19 chr12 113161529
chr12:113161697 C
C
G
G
38 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(35): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
72 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(69): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.2300+196G>C
c.2300+196G>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 18/19 chr12 113161697
chr12:113161760 G
G
A
A
1 a0019c0016t0001g0059
a0019c0016t0001g0059
1 HG02615.hp1
HG02615.hp1
intron_variant MODIFIER c.2300+133C>T
c.2300+133C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 18/19 chr12 113161760
chr12:113161794 T
T
TCCCCGC
TCCCCGC
5 a0001c0001t0001g0113
a0002c0004t0005g0023
a0002c0004t0005g0069
others(2): Show 
a0001c0001t0001g0113
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0009t0001g0022
7 HG02056.hp1
HG02559.hp1
HG02717.hp2
others(4): Show 
HG02056.hp1
HG02559.hp1
HG02717.hp2
HG03195.hp2
HG03486.hp1
NA18946.hp2
NA19003.hp2
intron_variant MODIFIER c.2300+93_2300+98dup
others(6): Show 
c.2300+93_2300+98dupGCGGGG
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 18/19 chr12 113161794
chr12:113162061 T
T
C
C
38 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(35): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
72 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(69): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.2196-64A>G
c.2196-64A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/19 chr12 113162061
chr12:113162074 C
C
T
T
1 a0001c0001t0001g0109
a0001c0001t0001g0109
1 HG00735.hp1
HG00735.hp1
intron_variant MODIFIER c.2196-77G>A
c.2196-77G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/19 chr12 113162074
chr12:113162203 C
C
CAAAAGGG
others(6): Show 
CAAAAGGGAGTGCG
1 a0001c0001t0013g0116
a0001c0001t0013g0116
1 NA19075.hp2
NA19075.hp2
intron_variant MODIFIER c.2196-219_2196-207d
others(15): Show 
c.2196-219_2196-207dupCGCACTCCCTTTT
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/19 chr12 113162203
chr12:113162522 G
G
C
C
3 a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
4 HG02559.hp1
HG02717.hp2
HG03195.hp2
others(1): Show 
HG02559.hp1
HG02717.hp2
HG03195.hp2
HG03486.hp1
intron_variant MODIFIER c.2195+410C>G
c.2195+410C>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/19 chr12 113162522
chr12:113162614 T
T
C
C
33 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(30): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0016c0012t0003g0063
a0017c0014t0002g0044
a0020c0013t0011g0048
67 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(64): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.2195+318A>G
c.2195+318A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/19 chr12 113162614
chr12:113162624 G
G
A
A
17 a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
others(14): Show 
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0017c0014t0002g0044
a0020c0013t0011g0048
36 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(33): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02155.hp2
HG04115.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18998.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19083.hp1
NA19085.hp1
intron_variant MODIFIER c.2195+308C>T
c.2195+308C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/19 chr12 113162624
chr12:113162625 C
C
G
G
3 a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
3 NA18960.hp2
NA18968.hp1
NA19065.hp1
NA18960.hp2
NA18968.hp1
NA19065.hp1
intron_variant MODIFIER c.2195+307G>C
c.2195+307G>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/19 chr12 113162625
chr12:113162651 C
C
T
T
1 a0018c0015t0014g0055
a0018c0015t0014g0055
1 HG03209.hp1
HG03209.hp1
intron_variant MODIFIER c.2195+281G>A
c.2195+281G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/19 chr12 113162651
chr12:113162677 G
G
A
A
1 a0002c0002t0002g0046
a0002c0002t0002g0046
1 NA19006.hp1
NA19006.hp1
intron_variant MODIFIER c.2195+255C>T
c.2195+255C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/19 chr12 113162677
chr12:113162679 A
A
T
T
1 a0002c0002t0002g0046
a0002c0002t0002g0046
1 NA19006.hp1
NA19006.hp1
intron_variant MODIFIER c.2195+253T>A
c.2195+253T>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/19 chr12 113162679
chr12:113162680 T
T
G
G
1 a0002c0002t0002g0046
a0002c0002t0002g0046
1 NA19006.hp1
NA19006.hp1
intron_variant MODIFIER c.2195+252A>C
c.2195+252A>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/19 chr12 113162680
chr12:113162832 GGGAGGGG
others(65): Show 
GGGAGGGGCGGCTCACTCGATCACTCACCCCAGGCACGGAGGAGCAGCTC
ACTCGGTCACTCACCCCGAGCAT
G
G
1 a0001c0001t0001g0075
a0001c0001t0001g0075
1 NA18984.hp2
NA18984.hp2
intron_variant MODIFIER c.2195+28_2195+99del
others(72): Show 
c.2195+28_2195+99delATGCTCGGGGTGAGTGACCGAGTGAGCTGC
TCCTCCGTGCCTGGGGTGAGTGATCGAGTGAGCCGCCCCTCC
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/19 chr12 113162832
chr12:113162849 C
C
T
T
33 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(30): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0016c0012t0003g0063
a0017c0014t0002g0044
a0020c0013t0011g0048
67 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(64): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.2195+83G>A
c.2195+83G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/19 chr12 113162849
chr12:113162850 G
G
A
A
33 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(30): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0016c0012t0003g0063
a0017c0014t0002g0044
a0020c0013t0011g0048
67 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(64): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.2195+82C>T
c.2195+82C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 17/19 chr12 113162850
chr12:113163097 C
C
T
T
1 a0019c0016t0001g0059
a0019c0016t0001g0059
1 HG02615.hp1
HG02615.hp1
intron_variant MODIFIER c.2081+35G>A
c.2081+35G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 16/19 chr12 113163097
chr12:113163098 A
A
G
G
38 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(35): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
72 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(69): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.2081+34T>C
c.2081+34T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 16/19 chr12 113163098
chr12:113163276 T
T
C
C
1 a0002c0002t0002g0046
a0002c0002t0002g0046
1 NA19006.hp1
NA19006.hp1
splice_acceptor_variant&intron_variant HIGH c.1939-2A>G
c.1939-2A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 15/19 chr12 113163276
chr12:113163277 G
G
T
T
1 a0002c0002t0002g0046
a0002c0002t0002g0046
1 NA19006.hp1
NA19006.hp1
splice_region_variant&intron_variant LOW c.1939-3C>A
c.1939-3C>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 15/19 chr12 113163277
chr12:113163394 A
A
G
G
2 a0002c0010t0001g0052
a0002c0010t0001g0053
a0002c0010t0001g0052
a0002c0010t0001g0053
2 HG02055.hp1
HG02559.hp2
HG02055.hp1
HG02559.hp2
intron_variant MODIFIER c.1939-120T>C
c.1939-120T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 15/19 chr12 113163394
chr12:113163602 T
T
C
C
39 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(36): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0057
a0006c0007t0007g0058
a0015c0021t0001g0087
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
74 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(71): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.1939-328A>G
c.1939-328A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 15/19 chr12 113163602
chr12:113163709 G
G
T
T
1 a0002c0002t0002g0046
a0002c0002t0002g0046
1 NA19006.hp1
NA19006.hp1
intron_variant MODIFIER c.1938+358C>A
c.1938+358C>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 15/19 chr12 113163709
chr12:113163714 C
C
T
T
1 a0001c0001t0001g0115
a0001c0001t0001g0115
1 HG02738.hp2
HG02738.hp2
intron_variant MODIFIER c.1938+353G>A
c.1938+353G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 15/19 chr12 113163714
chr12:113163715 G
G
A
A
2 a0001c0001t0001g0094
a0001c0001t0001g0106
a0001c0001t0001g0094
a0001c0001t0001g0106
2 HG02896.hp2
HG03139.hp2
HG02896.hp2
HG03139.hp2
intron_variant MODIFIER c.1938+352C>T
c.1938+352C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 15/19 chr12 113163715
chr12:113163786 C
C
T
T
1 a0001c0001t0001g0074
a0001c0001t0001g0074
1 NA19074.hp2
NA19074.hp2
intron_variant MODIFIER c.1938+281G>A
c.1938+281G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 15/19 chr12 113163786
chr12:113164960 A
A
C
C
21 a0001c0001t0001g0002
a0001c0001t0001g0007
a0001c0001t0001g0014
others(18): Show 
a0001c0001t0001g0002
a0001c0001t0001g0007
a0001c0001t0001g0014
a0001c0001t0001g0028
a0001c0001t0001g0030
a0001c0001t0001g0037
a0001c0001t0001g0083
a0001c0001t0001g0092
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0101
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0121
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0018t0001g0102
a0004c0006t0001g0018
a0004c0006t0001g0150
a0010c0028t0001g0127
54 HG00140.hp2
HG00280.hp1
HG00408.hp2
others(51): Show 
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01192.hp2
HG01257.hp2
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01993.hp2
HG02056.hp2
HG02148.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02602.hp2
HG02630.hp2
HG02683.hp1
HG02738.hp2
HG02976.hp2
HG03195.hp1
HG03491.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18956.hp2
NA18960.hp1
NA18971.hp2
NA18980.hp2
NA18982.hp2
NA19007.hp2
NA19010.hp1
NA19043.hp1
NA19064.hp1
NA19067.hp1
NA19080.hp2
NA19083.hp2
NA19088.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1720-675T>G
c.1720-675T>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 14/19 chr12 113164960
chr12:113165005 T
T
A
A
3 a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
3 HG00280.hp2
HG01168.hp2
HG06807.hp1
HG00280.hp2
HG01168.hp2
HG06807.hp1
intron_variant MODIFIER c.1719+639A>T
c.1719+639A>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 14/19 chr12 113165005
chr12:113165092 G
G
C
C
39 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(36): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
74 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(71): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.1719+552C>G
c.1719+552C>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 14/19 chr12 113165092
chr12:113165106 C
C
G
G
1 a0001c0001t0001g0137
a0001c0001t0001g0137
1 NA18950.hp2
NA18950.hp2
intron_variant MODIFIER c.1719+538G>C
c.1719+538G>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 14/19 chr12 113165106
chr12:113165477 TAAG
TAAG
T
T
39 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(36): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
74 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(71): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.1719+164_1719+166d
others(5): Show 
c.1719+164_1719+166delCTT
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 14/19 chr12 113165477
chr12:113166145 C
C
T
T
1 a0001c0001t0001g0089
a0001c0001t0001g0089
1 HG02572.hp2
HG02572.hp2
intron_variant MODIFIER c.1415-113G>A
c.1415-113G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113166145
chr12:113166275 C
C
T
T
2 a0002c0010t0001g0052
a0002c0010t0001g0053
a0002c0010t0001g0052
a0002c0010t0001g0053
2 HG02055.hp1
HG02559.hp2
HG02055.hp1
HG02559.hp2
intron_variant MODIFIER c.1415-243G>A
c.1415-243G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113166275
chr12:113166276 G
G
A
A
3 a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
3 HG00280.hp2
HG01168.hp2
HG06807.hp1
HG00280.hp2
HG01168.hp2
HG06807.hp1
intron_variant MODIFIER c.1415-244C>T
c.1415-244C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113166276
chr12:113166301 C
C
T
T
1 a0001c0001t0001g0134
a0001c0001t0001g0134
1 HG03139.hp1
HG03139.hp1
intron_variant MODIFIER c.1415-269G>A
c.1415-269G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113166301
chr12:113166364 A
A
G
G
39 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(36): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
74 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(71): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.1415-332T>C
c.1415-332T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113166364
chr12:113166399 T
T
TA
TA
38 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(35): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
73 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(70): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.1415-368dupT
c.1415-368dupT
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113166399
chr12:113166616 C
C
T
T
30 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(27): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0016c0012t0003g0063
a0017c0014t0002g0044
a0020c0013t0011g0048
63 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(60): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.1415-584G>A
c.1415-584G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113166616
chr12:113166636 C
C
T
T
30 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(27): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0016c0012t0003g0063
a0017c0014t0002g0044
a0020c0013t0011g0048
63 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(60): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.1415-604G>A
c.1415-604G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113166636
chr12:113166667 A
A
G
G
2 a0001c0001t0001g0016
a0001c0001t0001g0136
a0001c0001t0001g0016
a0001c0001t0001g0136
4 HG00140.hp1
HG00323.hp2
HG01346.hp2
others(1): Show 
HG00140.hp1
HG00323.hp2
HG01346.hp2
HG02451.hp2
intron_variant MODIFIER c.1415-635T>C
c.1415-635T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113166667
chr12:113166711 C
C
A
A
1 a0002c0002t0002g0046
a0002c0002t0002g0046
1 NA19006.hp1
NA19006.hp1
intron_variant MODIFIER c.1415-679G>T
c.1415-679G>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113166711
chr12:113166711 C
C
CA
CA
10 a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0039
others(7): Show 
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0006g0021
a0002c0002t0006g0038
a0017c0014t0002g0044
28 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(25): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02155.hp2
NA18945.hp2
NA18946.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18998.hp1
NA19012.hp2
NA19063.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19083.hp1
NA19085.hp1
intron_variant MODIFIER c.1415-680dupT
c.1415-680dupT
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113166711
chr12:113166719 C
C
A
A
31 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(28): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
a0017c0014t0002g0044
a0020c0013t0011g0048
65 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(62): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.1415-687G>T
c.1415-687G>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113166719
chr12:113167090 A
A
C
C
5 a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
others(2): Show 
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0018c0015t0014g0055
a0019c0016t0001g0059
5 HG00280.hp2
HG01168.hp2
HG02615.hp1
others(2): Show 
HG00280.hp2
HG01168.hp2
HG02615.hp1
HG03209.hp1
HG06807.hp1
intron_variant MODIFIER c.1415-1058T>G
c.1415-1058T>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113167090
chr12:113167099 C
C
A
A
1 a0001c0001t0001g0076
a0001c0001t0001g0076
1 NA19080.hp1
NA19080.hp1
intron_variant MODIFIER c.1415-1067G>T
c.1415-1067G>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113167099
chr12:113167204 C
C
T
T
1 a0001c0001t0001g0107
a0001c0001t0001g0107
1 HG01928.hp1
HG01928.hp1
intron_variant MODIFIER c.1415-1172G>A
c.1415-1172G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113167204
chr12:113167274 G
G
C
C
13 a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
others(10): Show 
a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0016c0012t0003g0063
27 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(24): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.1415-1242C>G
c.1415-1242C>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113167274
chr12:113167315 C
C
T
T
14 a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
others(11): Show 
a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
29 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(26): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.1415-1283G>A
c.1415-1283G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113167315
chr12:113167317 C
C
T
T
1 a0019c0016t0001g0059
a0019c0016t0001g0059
1 HG02615.hp1
HG02615.hp1
intron_variant MODIFIER c.1415-1285G>A
c.1415-1285G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113167317
chr12:113167331 C
C
T
T
1 a0001c0001t0001g0036
a0001c0001t0001g0036
2 HG02809.hp1
HG02886.hp1
HG02809.hp1
HG02886.hp1
intron_variant MODIFIER c.1415-1299G>A
c.1415-1299G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113167331
chr12:113167346 T
T
C
C
39 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(36): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
74 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(71): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.1415-1314A>G
c.1415-1314A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113167346
chr12:113167733 T
T
G
G
1 a0001c0001t0001g0011
a0001c0001t0001g0011
4 HG01109.hp1
HG03209.hp2
HG03453.hp1
others(1): Show 
HG01109.hp1
HG03209.hp2
HG03453.hp1
HG03540.hp2
intron_variant MODIFIER c.1415-1701A>C
c.1415-1701A>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113167733
chr12:113167785 C
C
T
T
1 a0002c0002t0002g0042
a0002c0002t0002g0042
1 HG02071.hp1
HG02071.hp1
intron_variant MODIFIER c.1415-1753G>A
c.1415-1753G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113167785
chr12:113167867 T
T
TGGCCCTG
others(4): Show 
TGGCCCTGGGCA
47 a0001c0001t0001g0036
a0001c0001t0001g0088
a0001c0001t0001g0089
others(44): Show 
a0001c0001t0001g0036
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0008t0001g0035
a0001c0008t0001g0142
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0010t0001g0052
a0002c0010t0001g0053
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0015c0021t0001g0087
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
84 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(81): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
NA20129.hp1
intron_variant MODIFIER c.1415-1836_1415-183
others(15): Show 
c.1415-1836_1415-1835insTGCCCAGGGCC
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113167867
chr12:113167906 T
T
G
G
1 a0001c0001t0001g0114
a0001c0001t0001g0114
1 HG02135.hp1
HG02135.hp1
intron_variant MODIFIER c.1414+1864A>C
c.1414+1864A>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113167906
chr12:113167964 C
C
T
T
2 a0001c0001t0001g0086
a0001c0001t0001g0090
a0001c0001t0001g0086
a0001c0001t0001g0090
2 HG01109.hp2
HG02735.hp1
HG01109.hp2
HG02735.hp1
intron_variant MODIFIER c.1414+1806G>A
c.1414+1806G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113167964
chr12:113168089 C
C
G
G
1 a0015c0021t0001g0087
a0015c0021t0001g0087
1 HG03225.hp2
HG03225.hp2
intron_variant MODIFIER c.1414+1681G>C
c.1414+1681G>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168089
chr12:113168186 C
C
A
A
5 a0001c0001t0001g0036
a0001c0008t0001g0035
a0001c0008t0001g0142
others(2): Show 
a0001c0001t0001g0036
a0001c0008t0001g0035
a0001c0008t0001g0142
a0002c0010t0001g0052
a0002c0010t0001g0053
7 HG02055.hp1
HG02559.hp2
HG02809.hp1
others(4): Show 
HG02055.hp1
HG02559.hp2
HG02809.hp1
HG02886.hp1
HG03471.hp2
HG03486.hp2
NA20129.hp1
intron_variant MODIFIER c.1414+1584G>T
c.1414+1584G>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168186
chr12:113168386 T
T
C
C
4 a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
others(1): Show 
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0018c0015t0014g0055
5 HG02559.hp1
HG02717.hp2
HG03195.hp2
others(2): Show 
HG02559.hp1
HG02717.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp1
intron_variant MODIFIER c.1414+1384A>G
c.1414+1384A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168386
chr12:113168524 C
C
T
T
1 a0001c0001t0001g0090
a0001c0001t0001g0090
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.1414+1246G>A
c.1414+1246G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168524
chr12:113168539 C
C
A
A
1 a0009c0029t0001g0132
a0009c0029t0001g0132
1 HG04199.hp2
HG04199.hp2
intron_variant MODIFIER c.1414+1231G>T
c.1414+1231G>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168539
chr12:113168541 G
G
A
A
7 a0001c0001t0001g0122
a0001c0001t0001g0134
a0001c0001t0001g0139
others(4): Show 
a0001c0001t0001g0122
a0001c0001t0001g0134
a0001c0001t0001g0139
a0001c0001t0004g0010
a0001c0001t0004g0032
a0001c0001t0004g0125
a0011c0017t0004g0093
11 HG02055.hp2
HG02109.hp1
HG02257.hp2
others(8): Show 
HG02055.hp2
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03579.hp1
intron_variant MODIFIER c.1414+1229C>T
c.1414+1229C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168541
chr12:113168556 T
T
C
C
1 a0001c0008t0001g0142
a0001c0008t0001g0142
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.1414+1214A>G
c.1414+1214A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168556
chr12:113168559 T
T
C
C
1 a0010c0028t0001g0127
a0010c0028t0001g0127
1 NA19088.hp2
NA19088.hp2
intron_variant MODIFIER c.1414+1211A>G
c.1414+1211A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168559
chr12:113168584 G
G
A
A
19 a0001c0001t0001g0002
a0001c0001t0001g0007
a0001c0001t0001g0028
others(16): Show 
a0001c0001t0001g0002
a0001c0001t0001g0007
a0001c0001t0001g0028
a0001c0001t0001g0030
a0001c0001t0001g0037
a0001c0001t0001g0083
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0101
a0001c0001t0001g0115
a0001c0001t0001g0117
a0001c0001t0001g0121
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0147
a0001c0018t0001g0102
a0004c0006t0001g0018
a0004c0006t0001g0150
a0010c0028t0001g0127
50 HG00140.hp2
HG00280.hp1
HG00408.hp2
others(47): Show 
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01192.hp2
HG01257.hp2
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01993.hp2
HG02056.hp2
HG02148.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02602.hp2
HG02630.hp2
HG02683.hp1
HG02738.hp2
HG03195.hp1
HG03491.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18939.hp1
NA18941.hp1
NA18956.hp2
NA18960.hp1
NA18971.hp2
NA18980.hp2
NA18982.hp2
NA19007.hp2
NA19010.hp1
NA19064.hp1
NA19067.hp1
NA19080.hp2
NA19083.hp2
NA19088.hp2
NA20752.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
intron_variant MODIFIER c.1414+1186C>T
c.1414+1186C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168584
chr12:113168635 A
A
C
C
1 a0020c0013t0011g0048
a0020c0013t0011g0048
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.1414+1135T>G
c.1414+1135T>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168635
chr12:113168671 C
C
T
T
1 a0001c0001t0001g0026
a0001c0001t0001g0026
2 HG01069.hp2
HG01071.hp2
HG01069.hp2
HG01071.hp2
intron_variant MODIFIER c.1414+1099G>A
c.1414+1099G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168671
chr12:113168673 G
G
A
A
1 a0001c0001t0013g0116
a0001c0001t0013g0116
1 NA19075.hp2
NA19075.hp2
intron_variant MODIFIER c.1414+1097C>T
c.1414+1097C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168673
chr12:113168823 G
G
A
A
1 a0004c0006t0001g0018
a0004c0006t0001g0018
3 HG02602.hp2
HG04115.hp1
NA20905.hp2
HG02602.hp2
HG04115.hp1
NA20905.hp2
intron_variant MODIFIER c.1414+947C>T
c.1414+947C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168823
chr12:113168844 C
C
T
T
3 a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
4 HG02559.hp1
HG02717.hp2
HG03195.hp2
others(1): Show 
HG02559.hp1
HG02717.hp2
HG03195.hp2
HG03486.hp1
intron_variant MODIFIER c.1414+926G>A
c.1414+926G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168844
chr12:113168891 C
C
T
T
4 a0001c0001t0004g0010
a0001c0001t0004g0032
a0001c0001t0004g0125
others(1): Show 
a0001c0001t0004g0010
a0001c0001t0004g0032
a0001c0001t0004g0125
a0011c0017t0004g0093
8 HG02055.hp2
HG02109.hp1
HG02257.hp2
others(5): Show 
HG02055.hp2
HG02109.hp1
HG02257.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
intron_variant MODIFIER c.1414+879G>A
c.1414+879G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113168891
chr12:113169245 C
C
T
T
1 a0001c0001t0001g0106
a0001c0001t0001g0106
1 HG03139.hp2
HG03139.hp2
intron_variant MODIFIER c.1414+525G>A
c.1414+525G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113169245
chr12:113169267 G
G
T
T
8 a0003c0003t0003g0004
a0003c0003t0003g0047
a0003c0003t0003g0064
others(5): Show 
a0003c0003t0003g0004
a0003c0003t0003g0047
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0009t0001g0022
a0016c0012t0003g0063
21 HG02080.hp1
HG02155.hp1
HG02698.hp2
others(18): Show 
HG02080.hp1
HG02155.hp1
HG02698.hp2
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.1414+503C>A
c.1414+503C>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113169267
chr12:113169314 C
C
T
T
1 a0001c0001t0001g0009
a0001c0001t0001g0009
4 NA18612.hp2
NA19009.hp2
NA19011.hp2
others(1): Show 
NA18612.hp2
NA19009.hp2
NA19011.hp2
NA19090.hp1
intron_variant MODIFIER c.1414+456G>A
c.1414+456G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113169314
chr12:113169433 A
A
G
G
1 a0001c0001t0001g0105
a0001c0001t0001g0105
1 HG01496.hp2
HG01496.hp2
intron_variant MODIFIER c.1414+337T>C
c.1414+337T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113169433
chr12:113169525 G
G
A
A
1 a0001c0001t0001g0095
a0001c0001t0001g0095
1 HG02145.hp1
HG02145.hp1
intron_variant MODIFIER c.1414+245C>T
c.1414+245C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113169525
chr12:113169630 A
A
G
G
1 a0001c0001t0001g0013
a0001c0001t0001g0013
3 NA18939.hp2
NA18957.hp1
NA18975.hp2
NA18939.hp2
NA18957.hp1
NA18975.hp2
intron_variant MODIFIER c.1414+140T>C
c.1414+140T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113169630
chr12:113169697 T
T
C
C
61 a0001c0001t0001g0016
a0001c0001t0001g0026
a0001c0001t0001g0034
others(58): Show 
a0001c0001t0001g0016
a0001c0001t0001g0026
a0001c0001t0001g0034
a0001c0001t0001g0036
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0122
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0004g0010
a0001c0001t0004g0032
a0001c0001t0004g0125
a0001c0008t0001g0035
a0001c0008t0001g0142
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0010t0001g0052
a0002c0010t0001g0053
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0011c0017t0004g0093
a0015c0021t0001g0087
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
106 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(103): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG01069.hp2
HG01071.hp2
HG01168.hp2
HG01346.hp2
HG01943.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG04184.hp1
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19009.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
NA20129.hp1
intron_variant MODIFIER c.1414+73A>G
c.1414+73A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 12/19 chr12 113169697
chr12:113170018 G
G
A
A
39 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(36): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
74 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(71): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.1280-114C>T
c.1280-114C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113170018
chr12:113170074 G
G
T
T
1 a0001c0001t0001g0104
a0001c0001t0001g0104
1 HG02683.hp2
HG02683.hp2
intron_variant MODIFIER c.1280-170C>A
c.1280-170C>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113170074
chr12:113170131 G
G
A
A
1 a0001c0001t0001g0117
a0001c0001t0001g0117
1 HG01993.hp2
HG01993.hp2
intron_variant MODIFIER c.1280-227C>T
c.1280-227C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113170131
chr12:113170516 G
G
A
A
1 a0001c0001t0001g0024
a0001c0001t0001g0024
2 HG01928.hp2
NA20300.hp1
HG01928.hp2
NA20300.hp1
intron_variant MODIFIER c.1280-612C>T
c.1280-612C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113170516
chr12:113170568 G
G
A
A
1 a0019c0016t0001g0059
a0019c0016t0001g0059
1 HG02615.hp1
HG02615.hp1
intron_variant MODIFIER c.1280-664C>T
c.1280-664C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113170568
chr12:113170667 T
T
C
C
4 a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
others(1): Show 
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0018c0015t0014g0055
5 HG02559.hp1
HG02717.hp2
HG03195.hp2
others(2): Show 
HG02559.hp1
HG02717.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp1
intron_variant MODIFIER c.1280-763A>G
c.1280-763A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113170667
chr12:113171204 T
T
C
C
1 a0001c0001t0001g0118
a0001c0001t0001g0118
1 HG01257.hp1
HG01257.hp1
intron_variant MODIFIER c.1279+1149A>G
c.1279+1149A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113171204
chr12:113171293 C
C
T
T
1 a0001c0001t0001g0103
a0001c0001t0001g0103
1 NA19000.hp2
NA19000.hp2
intron_variant MODIFIER c.1279+1060G>A
c.1279+1060G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113171293
chr12:113171333 G
G
C
C
1 a0001c0001t0001g0119
a0001c0001t0001g0119
1 HG02273.hp1
HG02273.hp1
intron_variant MODIFIER c.1279+1020C>G
c.1279+1020C>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113171333
chr12:113171496 C
C
T
T
1 a0001c0001t0001g0148
a0001c0001t0001g0148
1 HG02738.hp1
HG02738.hp1
intron_variant MODIFIER c.1279+857G>A
c.1279+857G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113171496
chr12:113171599 CA
CA
C
C
31 a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0123
others(28): Show 
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0123
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0009t0001g0022
a0016c0012t0003g0063
a0017c0014t0002g0044
a0020c0013t0011g0048
67 HG00408.hp1
HG00438.hp2
HG01257.hp2
others(64): Show 
HG00408.hp1
HG00438.hp2
HG01257.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02451.hp1
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.1279+753delT
c.1279+753delT
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113171599
chr12:113171805 A
A
G
G
31 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(28): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
a0017c0014t0002g0044
a0020c0013t0011g0048
65 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(62): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.1279+548T>C
c.1279+548T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113171805
chr12:113171877 G
G
A
A
1 a0018c0015t0014g0055
a0018c0015t0014g0055
1 HG03209.hp1
HG03209.hp1
intron_variant MODIFIER c.1279+476C>T
c.1279+476C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113171877
chr12:113171926 C
C
T
T
3 a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
4 HG02559.hp1
HG02717.hp2
HG03195.hp2
others(1): Show 
HG02559.hp1
HG02717.hp2
HG03195.hp2
HG03486.hp1
intron_variant MODIFIER c.1279+427G>A
c.1279+427G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113171926
chr12:113172021 T
T
G
G
1 a0001c0022t0003g0079
a0001c0022t0003g0079
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.1279+332A>C
c.1279+332A>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113172021
chr12:113172168 C
C
G
G
1 a0019c0016t0001g0059
a0019c0016t0001g0059
1 HG02615.hp1
HG02615.hp1
intron_variant MODIFIER c.1279+185G>C
c.1279+185G>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113172168
chr12:113172286 T
T
C
C
17 a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
others(14): Show 
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0017c0014t0002g0044
a0020c0013t0011g0048
36 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(33): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02155.hp2
HG04115.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18998.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19083.hp1
NA19085.hp1
intron_variant MODIFIER c.1279+67A>G
c.1279+67A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113172286
chr12:113172312 G
G
C
C
1 a0001c0001t0001g0121
a0001c0001t0001g0121
1 NA19080.hp2
NA19080.hp2
intron_variant MODIFIER c.1279+41C>G
c.1279+41C>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 11/19 chr12 113172312
chr12:113172637 G
G
A
A
14 a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
others(11): Show 
a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
29 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(26): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.1069-74C>T
c.1069-74C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113172637
chr12:113172644 G
G
A
A
1 a0001c0001t0001g0120
a0001c0001t0001g0120
1 NA19070.hp2
NA19070.hp2
intron_variant MODIFIER c.1069-81C>T
c.1069-81C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113172644
chr12:113172684 C
C
G
G
1 a0001c0001t0001g0101
a0001c0001t0001g0101
1 HG00280.hp1
HG00280.hp1
intron_variant MODIFIER c.1069-121G>C
c.1069-121G>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113172684
chr12:113172700 G
G
A
A
1 a0002c0004t0005g0069
a0002c0004t0005g0069
1 HG02559.hp1
HG02559.hp1
intron_variant MODIFIER c.1069-137C>T
c.1069-137C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113172700
chr12:113172710 T
T
C
C
1 a0001c0022t0003g0079
a0001c0022t0003g0079
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.1069-147A>G
c.1069-147A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113172710
chr12:113172773 T
T
A
A
14 a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
others(11): Show 
a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
29 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(26): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.1069-210A>T
c.1069-210A>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113172773
chr12:113172956 TTA
TTA
T
T
14 a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
others(11): Show 
a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
29 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(26): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.1069-395_1069-394d
others(4): Show 
c.1069-395_1069-394delTA
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113172956
chr12:113172959 T
T
A
A
14 a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
others(11): Show 
a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
29 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(26): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.1069-396A>T
c.1069-396A>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113172959
chr12:113172960 T
T
G
G
14 a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
others(11): Show 
a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
29 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(26): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.1069-397A>C
c.1069-397A>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113172960
chr12:113172982 A
A
T
T
1 a0015c0021t0001g0087
a0015c0021t0001g0087
1 HG03225.hp2
HG03225.hp2
intron_variant MODIFIER c.1069-419T>A
c.1069-419T>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113172982
chr12:113173034 G
G
A
A
1 a0019c0016t0001g0059
a0019c0016t0001g0059
1 HG02615.hp1
HG02615.hp1
intron_variant MODIFIER c.1069-471C>T
c.1069-471C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113173034
chr12:113173266 T
T
G
G
22 a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
others(19): Show 
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
41 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(38): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02071.hp1
HG02155.hp2
HG02615.hp1
HG03209.hp1
HG04115.hp2
HG06807.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18998.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19083.hp1
NA19085.hp1
intron_variant MODIFIER c.1069-703A>C
c.1069-703A>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113173266
chr12:113173392 T
T
C
C
1 a0020c0013t0011g0048
a0020c0013t0011g0048
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.1069-829A>G
c.1069-829A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113173392
chr12:113173396 C
C
G
G
18 a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
others(15): Show 
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0017c0014t0002g0044
a0019c0016t0001g0059
a0020c0013t0011g0048
37 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(34): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02155.hp2
HG02615.hp1
HG04115.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18998.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19083.hp1
NA19085.hp1
intron_variant MODIFIER c.1069-833G>C
c.1069-833G>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113173396
chr12:113173499 T
T
A
A
1 a0001c0001t0001g0094
a0001c0001t0001g0094
1 HG02896.hp2
HG02896.hp2
intron_variant MODIFIER c.1069-936A>T
c.1069-936A>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113173499
chr12:113173647 C
C
A
A
1 a0006c0007t0007g0058
a0006c0007t0007g0058
1 HG06807.hp1
HG06807.hp1
intron_variant MODIFIER c.1068+993G>T
c.1068+993G>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113173647
chr12:113173666 G
G
T
T
1 a0013c0025t0001g0100
a0013c0025t0001g0100
1 HG02818.hp2
HG02818.hp2
intron_variant MODIFIER c.1068+974C>A
c.1068+974C>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113173666
chr12:113173850 T
T
C
C
5 a0001c0001t0001g0007
a0001c0001t0001g0083
a0001c0001t0001g0121
others(2): Show 
a0001c0001t0001g0007
a0001c0001t0001g0083
a0001c0001t0001g0121
a0001c0001t0001g0140
a0010c0028t0001g0127
11 HG00408.hp2
NA18939.hp1
NA18956.hp2
others(8): Show 
HG00408.hp2
NA18939.hp1
NA18956.hp2
NA18982.hp2
NA19007.hp2
NA19010.hp1
NA19064.hp1
NA19067.hp1
NA19080.hp2
NA19083.hp2
NA19088.hp2
intron_variant MODIFIER c.1068+790A>G
c.1068+790A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113173850
chr12:113173954 G
G
A
A
3 a0001c0001t0001g0031
a0001c0001t0001g0146
a0008c0030t0001g0149
a0001c0001t0001g0031
a0001c0001t0001g0146
a0008c0030t0001g0149
4 HG03669.hp1
HG03688.hp2
HG03942.hp2
others(1): Show 
HG03669.hp1
HG03688.hp2
HG03942.hp2
HG04184.hp2
intron_variant MODIFIER c.1068+686C>T
c.1068+686C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113173954
chr12:113174013 T
T
C
C
1 a0003c0003t0003g0066
a0003c0003t0003g0066
1 HG02155.hp1
HG02155.hp1
intron_variant MODIFIER c.1068+627A>G
c.1068+627A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113174013
chr12:113174051 C
C
T
T
14 a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
others(11): Show 
a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
29 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(26): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.1068+589G>A
c.1068+589G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113174051
chr12:113174052 G
G
A
A
1 a0002c0010t0001g0053
a0002c0010t0001g0053
1 HG02559.hp2
HG02559.hp2
intron_variant MODIFIER c.1068+588C>T
c.1068+588C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113174052
chr12:113174179 C
C
CAA
CAA
6 a0002c0002t0002g0041
a0006c0007t0007g0056
a0006c0007t0007g0057
others(3): Show 
a0002c0002t0002g0041
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0018c0015t0014g0055
a0019c0016t0001g0059
6 HG00280.hp2
HG01168.hp2
HG02615.hp1
others(3): Show 
HG00280.hp2
HG01168.hp2
HG02615.hp1
HG03209.hp1
HG06807.hp1
NA18948.hp1
intron_variant MODIFIER c.1068+459_1068+460d
others(4): Show 
c.1068+459_1068+460dupTT
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113174179
chr12:113174179 C
C
CAAA
CAAA
16 a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
others(13): Show 
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0017c0014t0002g0044
a0020c0013t0011g0048
35 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(32): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02155.hp2
HG04115.hp2
NA18945.hp2
NA18946.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18998.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19083.hp1
NA19085.hp1
intron_variant MODIFIER c.1068+458_1068+460d
others(5): Show 
c.1068+458_1068+460dupTTT
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113174179
chr12:113174205 CATAATCC
others(7): Show 
CATAATCCCAGTACT
C
C
3 a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
4 HG02559.hp1
HG02717.hp2
HG03195.hp2
others(1): Show 
HG02559.hp1
HG02717.hp2
HG03195.hp2
HG03486.hp1
intron_variant MODIFIER c.1068+421_1068+434d
others(16): Show 
c.1068+421_1068+434delAGTACTGGGATTAT
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113174205
chr12:113174348 A
A
G
G
1 a0001c0008t0001g0142
a0001c0008t0001g0142
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.1068+292T>C
c.1068+292T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113174348
chr12:113174461 T
T
C
C
1 a0001c0022t0003g0079
a0001c0022t0003g0079
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.1068+179A>G
c.1068+179A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113174461
chr12:113174508 A
A
G
G
1 a0001c0001t0001g0015
a0001c0001t0001g0015
3 HG02630.hp1
HG02886.hp2
HG03225.hp1
HG02630.hp1
HG02886.hp2
HG03225.hp1
intron_variant MODIFIER c.1068+132T>C
c.1068+132T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113174508
chr12:113174548 G
G
A
A
14 a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
others(11): Show 
a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
29 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(26): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.1068+92C>T
c.1068+92C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113174548
chr12:113174622 A
A
T
T
1 a0001c0001t0001g0099
a0001c0001t0001g0099
1 HG01978.hp1
HG01978.hp1
intron_variant MODIFIER c.1068+18T>A
c.1068+18T>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 10/19 chr12 113174622
chr12:113174776 G
G
A
A
2 a0002c0004t0005g0023
a0002c0004t0005g0070
a0002c0004t0005g0023
a0002c0004t0005g0070
3 HG02717.hp2
HG03195.hp2
HG03486.hp1
HG02717.hp2
HG03195.hp2
HG03486.hp1
splice_region_variant&intron_variant LOW c.937-5C>T
c.937-5C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 9/19 chr12 113174776
chr12:113174959 T
T
G
G
1 a0018c0015t0014g0055
a0018c0015t0014g0055
1 HG03209.hp1
HG03209.hp1
intron_variant MODIFIER c.875-23A>C
c.875-23A>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 8/19 chr12 113174959
chr12:113175263 C
C
T
T
1 a0018c0015t0014g0055
a0018c0015t0014g0055
1 HG03209.hp1
HG03209.hp1
intron_variant MODIFIER c.753-106G>A
c.753-106G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113175263
chr12:113175336 A
A
C
C
1 a0002c0002t0002g0019
a0002c0002t0002g0019
2 NA18972.hp1
NA18984.hp1
NA18972.hp1
NA18984.hp1
intron_variant MODIFIER c.753-179T>G
c.753-179T>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113175336
chr12:113175474 T
T
C
C
39 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(36): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
74 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(71): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.753-317A>G
c.753-317A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113175474
chr12:113175596 G
G
A
A
14 a0001c0001t0001g0016
a0001c0001t0001g0026
a0001c0001t0001g0034
others(11): Show 
a0001c0001t0001g0016
a0001c0001t0001g0026
a0001c0001t0001g0034
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0122
a0001c0001t0001g0134
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0004g0010
a0001c0001t0004g0032
a0001c0001t0004g0125
a0011c0017t0004g0093
22 HG00140.hp1
HG00323.hp2
HG01069.hp2
others(19): Show 
HG00140.hp1
HG00323.hp2
HG01069.hp2
HG01071.hp2
HG01346.hp2
HG01943.hp2
HG02055.hp2
HG02109.hp1
HG02257.hp2
HG02451.hp2
HG02735.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03579.hp1
HG04184.hp1
NA18950.hp2
NA19009.hp1
intron_variant MODIFIER c.753-439C>T
c.753-439C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113175596
chr12:113175644 C
C
T
T
1 a0001c0001t0001g0073
a0001c0001t0001g0073
1 HG01346.hp1
HG01346.hp1
intron_variant MODIFIER c.753-487G>A
c.753-487G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113175644
chr12:113175705 C
C
T
T
7 a0003c0003t0003g0004
a0003c0003t0003g0047
a0003c0003t0003g0064
others(4): Show 
a0003c0003t0003g0004
a0003c0003t0003g0047
a0003c0003t0003g0064
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0009t0001g0022
a0016c0012t0003g0063
20 HG02080.hp1
HG02155.hp1
HG02698.hp2
others(17): Show 
HG02080.hp1
HG02155.hp1
HG02698.hp2
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.753-548G>A
c.753-548G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113175705
chr12:113175780 C
C
A
A
13 a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
others(10): Show 
a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
28 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(25): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.753-623G>T
c.753-623G>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113175780
chr12:113175976 T
T
TCCCTCCC
others(16): Show 
TCCCTCCCCACTTCCCCCACATCC
1 a0001c0001t0001g0134
a0001c0001t0001g0134
1 HG03139.hp1
HG03139.hp1
intron_variant MODIFIER c.752+841_753-820dup
others(23): Show 
c.752+841_753-820dupGGATGTGGGGGAAGTGGGGAGGG
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113175976
chr12:113176043 G
G
T
T
1 a0002c0004t0005g0069
a0002c0004t0005g0069
1 HG02559.hp1
HG02559.hp1
intron_variant MODIFIER c.752+797C>A
c.752+797C>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113176043
chr12:113176051 C
C
T
T
47 a0001c0001t0001g0036
a0001c0001t0001g0088
a0001c0001t0001g0089
others(44): Show 
a0001c0001t0001g0036
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0008t0001g0035
a0001c0008t0001g0142
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0010t0001g0052
a0002c0010t0001g0053
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0015c0021t0001g0087
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
84 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(81): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
NA20129.hp1
intron_variant MODIFIER c.752+789G>A
c.752+789G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113176051
chr12:113176102 G
G
T
T
2 a0002c0010t0001g0052
a0002c0010t0001g0053
a0002c0010t0001g0052
a0002c0010t0001g0053
2 HG02055.hp1
HG02559.hp2
HG02055.hp1
HG02559.hp2
intron_variant MODIFIER c.752+738C>A
c.752+738C>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113176102
chr12:113176235 T
T
C
C
39 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(36): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
74 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(71): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.752+605A>G
c.752+605A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113176235
chr12:113176362 G
G
GT
GT
17 a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
others(14): Show 
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0017c0014t0002g0044
a0020c0013t0011g0048
36 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(33): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02155.hp2
HG04115.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18998.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19083.hp1
NA19085.hp1
intron_variant MODIFIER c.752+477dupA
c.752+477dupA
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113176362
chr12:113176491 C
C
T
T
1 a0001c0001t0001g0084
a0001c0001t0001g0084
1 NA19009.hp1
NA19009.hp1
intron_variant MODIFIER c.752+349G>A
c.752+349G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113176491
chr12:113176513 G
G
A
A
1 a0001c0001t0001g0123
a0001c0001t0001g0123
1 NA19002.hp1
NA19002.hp1
intron_variant MODIFIER c.752+327C>T
c.752+327C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113176513
chr12:113176591 A
A
G
G
1 a0001c0001t0001g0088
a0001c0001t0001g0088
1 HG02647.hp2
HG02647.hp2
intron_variant MODIFIER c.752+249T>C
c.752+249T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 7/19 chr12 113176591
chr12:113177001 C
C
T
T
1 a0001c0001t0001g0098
a0001c0001t0001g0098
1 NA18941.hp1
NA18941.hp1
intron_variant MODIFIER c.656+51G>A
c.656+51G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 6/19 chr12 113177001
chr12:113177019 T
T
C
C
39 a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
others(36): Show 
a0001c0022t0003g0079
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
74 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(71): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02615.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.656+33A>G
c.656+33A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 6/19 chr12 113177019
chr12:113177386 A
A
T
T
1 a0016c0012t0003g0063
a0016c0012t0003g0063
1 NA19090.hp2
NA19090.hp2
intron_variant MODIFIER c.615-293T>A
c.615-293T>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113177386
chr12:113177466 C
C
T
T
1 a0019c0016t0001g0059
a0019c0016t0001g0059
1 HG02615.hp1
HG02615.hp1
intron_variant MODIFIER c.615-373G>A
c.615-373G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113177466
chr12:113177572 G
G
T
T
1 a0001c0001t0001g0098
a0001c0001t0001g0098
1 NA18941.hp1
NA18941.hp1
intron_variant MODIFIER c.615-479C>A
c.615-479C>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113177572
chr12:113177762 A
A
G
G
1 a0018c0015t0014g0055
a0018c0015t0014g0055
1 HG03209.hp1
HG03209.hp1
intron_variant MODIFIER c.615-669T>C
c.615-669T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113177762
chr12:113177820 C
C
T
T
1 a0018c0015t0014g0055
a0018c0015t0014g0055
1 HG03209.hp1
HG03209.hp1
intron_variant MODIFIER c.615-727G>A
c.615-727G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113177820
chr12:113177994 T
T
C
C
2 a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0088
a0001c0001t0001g0089
2 HG02572.hp2
HG02647.hp2
HG02572.hp2
HG02647.hp2
intron_variant MODIFIER c.615-901A>G
c.615-901A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113177994
chr12:113178015 C
C
T
T
14 a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
others(11): Show 
a0001c0022t0003g0079
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
29 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(26): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02622.hp2
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.615-922G>A
c.615-922G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113178015
chr12:113178066 T
T
C
C
22 a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
others(19): Show 
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
41 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(38): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG02071.hp1
HG02155.hp2
HG02615.hp1
HG03209.hp1
HG04115.hp2
HG06807.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18998.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19083.hp1
NA19085.hp1
intron_variant MODIFIER c.614+911A>G
c.614+911A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113178066
chr12:113178240 A
A
C
C
1 a0001c0001t0001g0147
a0001c0001t0001g0147
1 HG02683.hp1
HG02683.hp1
intron_variant MODIFIER c.614+737T>G
c.614+737T>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113178240
chr12:113178545 C
C
CT
CT
6 a0001c0001t0001g0136
a0002c0004t0005g0023
a0002c0004t0005g0069
others(3): Show 
a0001c0001t0001g0136
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0003c0003t0003g0064
a0015c0021t0001g0087
7 HG00140.hp1
HG02559.hp1
HG02717.hp2
others(4): Show 
HG00140.hp1
HG02559.hp1
HG02717.hp2
HG03195.hp2
HG03225.hp2
HG03486.hp1
NA18994.hp1
intron_variant MODIFIER c.614+431dupA
c.614+431dupA
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113178545
chr12:113178569 G
G
T
T
1 a0001c0001t0001g0097
a0001c0001t0001g0097
1 HG03491.hp1
HG03491.hp1
intron_variant MODIFIER c.614+408C>A
c.614+408C>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113178569
chr12:113178634 C
C
T
T
1 a0001c0001t0001g0096
a0001c0001t0001g0096
1 HG02148.hp2
HG02148.hp2
intron_variant MODIFIER c.614+343G>A
c.614+343G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113178634
chr12:113178795 G
G
A
A
4 a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
others(1): Show 
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0018c0015t0014g0055
4 HG00280.hp2
HG01168.hp2
HG03209.hp1
others(1): Show 
HG00280.hp2
HG01168.hp2
HG03209.hp1
HG06807.hp1
intron_variant MODIFIER c.614+182C>T
c.614+182C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113178795
chr12:113178850 G
G
GT
GT
3 a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
3 NA18960.hp2
NA18968.hp1
NA19065.hp1
NA18960.hp2
NA18968.hp1
NA19065.hp1
intron_variant MODIFIER c.614+126dupA
c.614+126dupA
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113178850
chr12:113178908 C
C
T
T
1 a0001c0001t0001g0095
a0001c0001t0001g0095
1 HG02145.hp1
HG02145.hp1
intron_variant MODIFIER c.614+69G>A
c.614+69G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 5/19 chr12 113178908
chr12:113179441 C
C
T
T
1 a0001c0001t0001g0094
a0001c0001t0001g0094
1 HG02896.hp2
HG02896.hp2
intron_variant MODIFIER c.376-110G>A
c.376-110G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 3/19 chr12 113179441
chr12:113179450 G
G
A
A
1 a0001c0001t0004g0125
a0001c0001t0004g0125
1 HG02109.hp1
HG02109.hp1
intron_variant MODIFIER c.376-119C>T
c.376-119C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 3/19 chr12 113179450
chr12:113179545 G
G
C
C
1 a0017c0014t0002g0044
a0017c0014t0002g0044
1 HG00408.hp1
HG00408.hp1
intron_variant MODIFIER c.376-214C>G
c.376-214C>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 3/19 chr12 113179545
chr12:113179563 G
G
A
A
1 a0001c0001t0001g0036
a0001c0001t0001g0036
2 HG02809.hp1
HG02886.hp1
HG02809.hp1
HG02886.hp1
intron_variant MODIFIER c.376-232C>T
c.376-232C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 3/19 chr12 113179563
chr12:113179591 G
G
C
C
20 a0001c0001t0009g0126
a0002c0002t0002g0003
a0002c0002t0002g0019
others(17): Show 
a0001c0001t0009g0126
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
39 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(36): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02155.hp2
HG02523.hp2
HG02615.hp1
HG03209.hp1
HG04115.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18998.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19083.hp1
NA19085.hp1
intron_variant MODIFIER c.376-260C>G
c.376-260C>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 3/19 chr12 113179591
chr12:113179801 C
C
T
T
4 a0001c0001t0001g0028
a0006c0007t0007g0056
a0006c0007t0007g0057
others(1): Show 
a0001c0001t0001g0028
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
5 HG00280.hp2
HG00738.hp2
HG00741.hp1
others(2): Show 
HG00280.hp2
HG00738.hp2
HG00741.hp1
HG01168.hp2
HG06807.hp1
intron_variant MODIFIER c.375+134G>A
c.375+134G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 3/19 chr12 113179801
chr12:113179857 G
G
A
A
4 a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0022t0003g0079
others(1): Show 
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0022t0003g0079
a0014c0020t0001g0131
4 HG02257.hp1
HG02572.hp2
HG02622.hp2
others(1): Show 
HG02257.hp1
HG02572.hp2
HG02622.hp2
HG02647.hp2
intron_variant MODIFIER c.375+78C>T
c.375+78C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 3/19 chr12 113179857
chr12:113179917 G
G
A
A
2 a0002c0004t0005g0023
a0002c0004t0005g0070
a0002c0004t0005g0023
a0002c0004t0005g0070
3 HG02717.hp2
HG03195.hp2
HG03486.hp1
HG02717.hp2
HG03195.hp2
HG03486.hp1
intron_variant MODIFIER c.375+18C>T
c.375+18C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 3/19 chr12 113179917
chr12:113180024 G
G
A
A
3 a0001c0001t0001g0024
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0024
a0001c0001t0001g0072
a0001c0001t0001g0076
4 HG01928.hp2
NA19000.hp1
NA19080.hp1
others(1): Show 
HG01928.hp2
NA19000.hp1
NA19080.hp1
NA20300.hp1
intron_variant MODIFIER c.305-19C>T
c.305-19C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 2/19 chr12 113180024
chr12:113180204 G
G
A
A
1 a0001c0001t0001g0135
a0001c0001t0001g0135
1 HG03491.hp2
HG03491.hp2
intron_variant MODIFIER c.305-199C>T
c.305-199C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 2/19 chr12 113180204
chr12:113180229 G
G
A
A
12 a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
others(9): Show 
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
27 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(24): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.305-224C>T
c.305-224C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 2/19 chr12 113180229
chr12:113180550 C
C
T
T
13 a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
others(10): Show 
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
28 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(25): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.304+379G>A
c.304+379G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 2/19 chr12 113180550
chr12:113180663 T
T
C
C
41 a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
others(38): Show 
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0001g0054
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0010t0001g0052
a0002c0010t0001g0053
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
76 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(73): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG01891.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.304+266A>G
c.304+266A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 2/19 chr12 113180663
chr12:113180811 C
C
A
A
1 a0001c0001t0001g0033
a0001c0001t0001g0033
2 HG02071.hp2
HG02135.hp2
HG02071.hp2
HG02135.hp2
intron_variant MODIFIER c.304+118G>T
c.304+118G>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 2/19 chr12 113180811
chr12:113180825 A
A
G
G
3 a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
4 HG02559.hp1
HG02717.hp2
HG03195.hp2
others(1): Show 
HG02559.hp1
HG02717.hp2
HG03195.hp2
HG03486.hp1
intron_variant MODIFIER c.304+104T>C
c.304+104T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 2/19 chr12 113180825
chr12:113180841 C
C
T
T
2 a0002c0010t0001g0052
a0002c0010t0001g0053
a0002c0010t0001g0052
a0002c0010t0001g0053
2 HG02055.hp1
HG02559.hp2
HG02055.hp1
HG02559.hp2
intron_variant MODIFIER c.304+88G>A
c.304+88G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 2/19 chr12 113180841
chr12:113180926 C
C
T
T
1 a0001c0001t0001g0092
a0001c0001t0001g0092
1 NA19043.hp1
NA19043.hp1
splice_region_variant&intron_variant LOW c.304+3G>A
c.304+3G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 2/19 chr12 113180926
chr12:113181071 G
G
A
A
2 a0001c0001t0001g0017
a0001c0001t0012g0138
a0001c0001t0001g0017
a0001c0001t0012g0138
4 HG02145.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG02145.hp2
HG03041.hp1
HG03130.hp2
NA18906.hp2
intron_variant MODIFIER c.175-13C>T
c.175-13C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113181071
chr12:113181075 G
G
C
C
1 a0001c0001t0001g0128
a0001c0001t0001g0128
1 HG03579.hp2
HG03579.hp2
intron_variant MODIFIER c.175-17C>G
c.175-17C>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113181075
chr12:113181171 C
C
T
T
1 a0001c0001t0001g0091
a0001c0001t0001g0091
1 HG03834.hp1
HG03834.hp1
intron_variant MODIFIER c.175-113G>A
c.175-113G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113181171
chr12:113181198 G
G
A
A
41 a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
others(38): Show 
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0001g0054
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0010t0001g0052
a0002c0010t0001g0053
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
76 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(73): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG01891.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.175-140C>T
c.175-140C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113181198
chr12:113181257 G
G
A
A
1 a0001c0024t0001g0133
a0001c0024t0001g0133
1 HG02723.hp2
HG02723.hp2
intron_variant MODIFIER c.175-199C>T
c.175-199C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113181257
chr12:113181292 AT
AT
A
A
32 a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0134
others(29): Show 
a0001c0001t0001g0036
a0001c0001t0001g0077
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0139
a0001c0001t0001g0144
a0001c0008t0001g0035
a0001c0008t0001g0142
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0004t0001g0054
a0002c0010t0001g0052
a0002c0010t0001g0053
a0003c0003t0003g0062
a0003c0003t0003g0067
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
53 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(50): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG01891.hp1
HG02055.hp1
HG02071.hp1
HG02155.hp2
HG02559.hp2
HG02615.hp1
HG02809.hp1
HG02886.hp1
HG02897.hp2
HG02965.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG04115.hp2
HG06807.hp1
NA18942.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18962.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18998.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19083.hp1
NA19085.hp1
NA20129.hp1
intron_variant MODIFIER c.175-235delA
c.175-235delA
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113181292
chr12:113181456 C
C
T
T
6 a0001c0001t0001g0036
a0001c0001t0001g0088
a0001c0001t0001g0089
others(3): Show 
a0001c0001t0001g0036
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0008t0001g0035
a0001c0008t0001g0142
a0015c0021t0001g0087
8 HG02572.hp2
HG02647.hp2
HG02809.hp1
others(5): Show 
HG02572.hp2
HG02647.hp2
HG02809.hp1
HG02886.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp2
NA20129.hp1
intron_variant MODIFIER c.175-398G>A
c.175-398G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113181456
chr12:113181478 ATT
ATT
A
A
13 a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
others(10): Show 
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
28 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(25): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.175-422_175-421del
others(2): Show 
c.175-422_175-421delAA
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113181478
chr12:113181482 T
T
A
A
13 a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0015
others(10): Show 
a0001c0001t0001g0005
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0090
a0001c0001t0001g0129
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0024t0001g0133
a0009c0029t0001g0132
a0012c0026t0001g0130
a0014c0020t0001g0131
29 HG01069.hp2
HG01071.hp2
HG01099.hp2
others(26): Show 
HG01069.hp2
HG01071.hp2
HG01099.hp2
HG01109.hp1
HG01168.hp1
HG01361.hp2
HG01978.hp2
HG02109.hp2
HG02257.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp2
HG02735.hp1
HG02886.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp1
HG03710.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp2
NA20129.hp2
intron_variant MODIFIER c.175-424A>T
c.175-424A>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113181482
chr12:113181550 T
T
C
C
7 a0001c0001t0001g0016
a0001c0001t0001g0026
a0001c0001t0001g0034
others(4): Show 
a0001c0001t0001g0016
a0001c0001t0001g0026
a0001c0001t0001g0034
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0136
a0001c0001t0001g0137
11 HG00140.hp1
HG00323.hp2
HG01069.hp2
others(8): Show 
HG00140.hp1
HG00323.hp2
HG01069.hp2
HG01071.hp2
HG01346.hp2
HG01943.hp2
HG02451.hp2
HG02735.hp2
HG04184.hp1
NA18950.hp2
NA19009.hp1
intron_variant MODIFIER c.175-492A>G
c.175-492A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113181550
chr12:113181576 G
G
T
T
3 a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
4 HG02559.hp1
HG02717.hp2
HG03195.hp2
others(1): Show 
HG02559.hp1
HG02717.hp2
HG03195.hp2
HG03486.hp1
intron_variant MODIFIER c.175-518C>A
c.175-518C>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113181576
chr12:113181610 C
C
A
A
8 a0003c0003t0003g0004
a0003c0003t0003g0047
a0003c0003t0003g0064
others(5): Show 
a0003c0003t0003g0004
a0003c0003t0003g0047
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0009t0001g0022
a0016c0012t0003g0063
21 HG02080.hp1
HG02155.hp1
HG02698.hp2
others(18): Show 
HG02080.hp1
HG02155.hp1
HG02698.hp2
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.175-552G>T
c.175-552G>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113181610
chr12:113181626 G
G
C
C
1 a0001c0001t0001g0078
a0001c0001t0001g0078
1 HG02602.hp1
HG02602.hp1
intron_variant MODIFIER c.175-568C>G
c.175-568C>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113181626
chr12:113181681 G
G
A
A
2 a0001c0001t0001g0017
a0001c0001t0012g0138
a0001c0001t0001g0017
a0001c0001t0012g0138
4 HG02145.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG02145.hp2
HG03041.hp1
HG03130.hp2
NA18906.hp2
intron_variant MODIFIER c.175-623C>T
c.175-623C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113181681
chr12:113182183 A
A
C
C
2 a0002c0004t0001g0054
a0018c0015t0014g0055
a0002c0004t0001g0054
a0018c0015t0014g0055
2 HG01891.hp1
HG03209.hp1
HG01891.hp1
HG03209.hp1
intron_variant MODIFIER c.175-1125T>G
c.175-1125T>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182183
chr12:113182186 C
C
A
A
13 a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
others(10): Show 
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
28 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(25): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.175-1128G>T
c.175-1128G>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182186
chr12:113182193 G
G
A
A
2 a0002c0004t0001g0054
a0018c0015t0014g0055
a0002c0004t0001g0054
a0018c0015t0014g0055
2 HG01891.hp1
HG03209.hp1
HG01891.hp1
HG03209.hp1
intron_variant MODIFIER c.175-1135C>T
c.175-1135C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182193
chr12:113182344 C
C
T
T
13 a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
others(10): Show 
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
28 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(25): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.175-1286G>A
c.175-1286G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182344
chr12:113182509 A
A
C
C
1 a0001c0001t0001g0090
a0001c0001t0001g0090
1 HG02735.hp1
HG02735.hp1
intron_variant MODIFIER c.175-1451T>G
c.175-1451T>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182509
chr12:113182538 T
T
C
C
1 a0005c0005t0001g0008
a0005c0005t0001g0008
4 HG02258.hp1
HG02280.hp2
HG02647.hp1
others(1): Show 
HG02258.hp1
HG02280.hp2
HG02647.hp1
HG03453.hp2
intron_variant MODIFIER c.175-1480A>G
c.175-1480A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182538
chr12:113182541 A
A
G
G
2 a0002c0010t0001g0052
a0002c0010t0001g0053
a0002c0010t0001g0052
a0002c0010t0001g0053
2 HG02055.hp1
HG02559.hp2
HG02055.hp1
HG02559.hp2
intron_variant MODIFIER c.175-1483T>C
c.175-1483T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182541
chr12:113182618 C
C
T
T
2 a0004c0006t0001g0018
a0004c0006t0001g0150
a0004c0006t0001g0018
a0004c0006t0001g0150
4 HG01099.hp1
HG02602.hp2
HG04115.hp1
others(1): Show 
HG01099.hp1
HG02602.hp2
HG04115.hp1
NA20905.hp2
intron_variant MODIFIER c.175-1560G>A
c.175-1560G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182618
chr12:113182708 C
C
T
T
3 a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
3 HG00280.hp2
HG01168.hp2
HG06807.hp1
HG00280.hp2
HG01168.hp2
HG06807.hp1
intron_variant MODIFIER c.175-1650G>A
c.175-1650G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182708
chr12:113182754 A
A
G
G
3 a0001c0001t0001g0088
a0001c0001t0001g0089
a0015c0021t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0015c0021t0001g0087
3 HG02572.hp2
HG02647.hp2
HG03225.hp2
HG02572.hp2
HG02647.hp2
HG03225.hp2
intron_variant MODIFIER c.175-1696T>C
c.175-1696T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182754
chr12:113182776 C
C
G
G
1 a0001c0022t0003g0079
a0001c0022t0003g0079
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.175-1718G>C
c.175-1718G>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182776
chr12:113182801 C
C
T
T
1 a0001c0001t0001g0073
a0001c0001t0001g0073
1 HG01346.hp1
HG01346.hp1
intron_variant MODIFIER c.175-1743G>A
c.175-1743G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182801
chr12:113182807 T
T
G
G
3 a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
3 NA18960.hp2
NA18968.hp1
NA19065.hp1
NA18960.hp2
NA18968.hp1
NA19065.hp1
intron_variant MODIFIER c.175-1749A>C
c.175-1749A>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182807
chr12:113182825 C
C
G
G
1 a0001c0001t0001g0086
a0001c0001t0001g0086
1 HG01109.hp2
HG01109.hp2
intron_variant MODIFIER c.175-1767G>C
c.175-1767G>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182825
chr12:113182843 C
C
A
A
1 a0001c0022t0003g0079
a0001c0022t0003g0079
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.175-1785G>T
c.175-1785G>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182843
chr12:113182876 C
C
CT
CT
10 a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0082
others(7): Show 
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0002c0002t0002g0040
a0002c0004t0001g0054
a0008c0030t0001g0149
a0018c0015t0014g0055
10 HG01891.hp1
HG02080.hp2
HG03209.hp1
others(7): Show 
HG01891.hp1
HG02080.hp2
HG03209.hp1
HG04184.hp1
HG04184.hp2
NA18979.hp1
NA19000.hp1
NA19009.hp1
NA19083.hp1
NA19083.hp2
intron_variant MODIFIER c.175-1819dupA
c.175-1819dupA
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182876
chr12:113182932 G
G
A
A
2 a0002c0010t0001g0052
a0002c0010t0001g0053
a0002c0010t0001g0052
a0002c0010t0001g0053
2 HG02055.hp1
HG02559.hp2
HG02055.hp1
HG02559.hp2
intron_variant MODIFIER c.175-1874C>T
c.175-1874C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182932
chr12:113182935 G
G
A
A
13 a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
others(10): Show 
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0016c0012t0003g0063
28 HG02080.hp1
HG02155.hp1
HG02280.hp1
others(25): Show 
HG02080.hp1
HG02155.hp1
HG02280.hp1
HG02451.hp1
HG02698.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp2
NA18969.hp1
NA18975.hp1
NA18990.hp2
NA18994.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19066.hp2
NA19081.hp2
NA19082.hp1
NA19090.hp2
intron_variant MODIFIER c.175-1877C>T
c.175-1877C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113182935
chr12:113183005 A
A
G
G
1 a0002c0002t0002g0039
a0002c0002t0002g0039
1 NA19074.hp1
NA19074.hp1
intron_variant MODIFIER c.175-1947T>C
c.175-1947T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183005
chr12:113183046 C
C
CAG
CAG
41 a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
others(38): Show 
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0001g0054
a0002c0004t0005g0023
a0002c0004t0005g0069
a0002c0004t0005g0070
a0002c0010t0001g0052
a0002c0010t0001g0053
a0003c0003t0003g0004
a0003c0003t0003g0012
a0003c0003t0003g0047
a0003c0003t0003g0060
a0003c0003t0003g0061
a0003c0003t0003g0062
a0003c0003t0003g0064
a0003c0003t0003g0065
a0003c0003t0003g0066
a0003c0003t0003g0067
a0003c0003t0003g0068
a0003c0009t0001g0022
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0016c0012t0003g0063
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
76 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(73): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG01891.hp1
HG02055.hp1
HG02071.hp1
HG02080.hp1
HG02155.hp1
HG02155.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03710.hp1
HG03831.hp1
HG04115.hp2
HG06807.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18975.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18990.hp2
NA18994.hp1
NA18998.hp1
NA19002.hp2
NA19003.hp2
NA19005.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19081.hp2
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19090.hp2
intron_variant MODIFIER c.175-1990_175-1989d
others(4): Show 
c.175-1990_175-1989dupCT
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183046
chr12:113183111 C
C
T
T
1 a0001c0001t0001g0081
a0001c0001t0001g0081
1 HG02717.hp1
HG02717.hp1
intron_variant MODIFIER c.175-2053G>A
c.175-2053G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183111
chr12:113183201 C
C
A
A
7 a0002c0004t0001g0054
a0002c0010t0001g0052
a0002c0010t0001g0053
others(4): Show 
a0002c0004t0001g0054
a0002c0010t0001g0052
a0002c0010t0001g0053
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0018c0015t0014g0055
7 HG00280.hp2
HG01168.hp2
HG01891.hp1
others(4): Show 
HG00280.hp2
HG01168.hp2
HG01891.hp1
HG02055.hp1
HG02559.hp2
HG03209.hp1
HG06807.hp1
intron_variant MODIFIER c.174+2077G>T
c.174+2077G>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183201
chr12:113183244 T
T
A
A
1 a0001c0001t0001g0139
a0001c0001t0001g0139
1 HG02965.hp2
HG02965.hp2
intron_variant MODIFIER c.174+2034A>T
c.174+2034A>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183244
chr12:113183276 T
T
A
A
1 a0001c0001t0001g0140
a0001c0001t0001g0140
1 NA18982.hp2
NA18982.hp2
intron_variant MODIFIER c.174+2002A>T
c.174+2002A>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183276
chr12:113183386 T
T
C
C
1 a0003c0003t0003g0068
a0003c0003t0003g0068
1 HG02280.hp1
HG02280.hp1
intron_variant MODIFIER c.174+1892A>G
c.174+1892A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183386
chr12:113183405 C
C
T
T
1 a0002c0002t0008g0049
a0002c0002t0008g0049
1 NA18960.hp2
NA18960.hp2
intron_variant MODIFIER c.174+1873G>A
c.174+1873G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183405
chr12:113183515 G
G
A
A
1 a0001c0001t0001g0141
a0001c0001t0001g0141
1 HG01361.hp1
HG01361.hp1
intron_variant MODIFIER c.174+1763C>T
c.174+1763C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183515
chr12:113183591 C
C
T
T
7 a0002c0004t0001g0054
a0002c0010t0001g0052
a0002c0010t0001g0053
others(4): Show 
a0002c0004t0001g0054
a0002c0010t0001g0052
a0002c0010t0001g0053
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0018c0015t0014g0055
7 HG00280.hp2
HG01168.hp2
HG01891.hp1
others(4): Show 
HG00280.hp2
HG01168.hp2
HG01891.hp1
HG02055.hp1
HG02559.hp2
HG03209.hp1
HG06807.hp1
intron_variant MODIFIER c.174+1687G>A
c.174+1687G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183591
chr12:113183609 T
T
C
C
1 a0002c0004t0005g0069
a0002c0004t0005g0069
1 HG02559.hp1
HG02559.hp1
intron_variant MODIFIER c.174+1669A>G
c.174+1669A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183609
chr12:113183655 T
T
C
C
1 a0001c0001t0001g0145
a0001c0001t0001g0145
1 NA18980.hp1
NA18980.hp1
intron_variant MODIFIER c.174+1623A>G
c.174+1623A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183655
chr12:113183705 C
C
T
T
25 a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
others(22): Show 
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0004t0001g0054
a0002c0010t0001g0052
a0002c0010t0001g0053
a0006c0007t0007g0056
a0006c0007t0007g0057
a0006c0007t0007g0058
a0017c0014t0002g0044
a0018c0015t0014g0055
a0019c0016t0001g0059
a0020c0013t0011g0048
44 HG00280.hp2
HG00408.hp1
HG00438.hp2
others(41): Show 
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG01168.hp2
HG01891.hp1
HG02055.hp1
HG02071.hp1
HG02155.hp2
HG02559.hp2
HG02615.hp1
HG03209.hp1
HG04115.hp2
HG06807.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18998.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19083.hp1
NA19085.hp1
intron_variant MODIFIER c.174+1573G>A
c.174+1573G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183705
chr12:113183781 CT
CT
C
C
8 a0001c0001t0001g0036
a0001c0001t0001g0143
a0001c0001t0001g0144
others(5): Show 
a0001c0001t0001g0036
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0008t0001g0035
a0001c0008t0001g0142
a0002c0002t0002g0045
a0002c0002t0002g0046
10 HG02809.hp1
HG02886.hp1
HG02897.hp2
others(7): Show 
HG02809.hp1
HG02886.hp1
HG02897.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
NA18951.hp2
NA18980.hp1
NA19006.hp1
NA20129.hp1
intron_variant MODIFIER c.174+1496delA
c.174+1496delA
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183781
chr12:113183881 G
G
T
T
2 a0002c0010t0001g0052
a0002c0010t0001g0053
a0002c0010t0001g0052
a0002c0010t0001g0053
2 HG02055.hp1
HG02559.hp2
HG02055.hp1
HG02559.hp2
intron_variant MODIFIER c.174+1397C>A
c.174+1397C>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113183881
chr12:113184181 G
G
C
C
1 a0001c0001t0001g0146
a0001c0001t0001g0146
1 HG03688.hp2
HG03688.hp2
intron_variant MODIFIER c.174+1097C>G
c.174+1097C>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113184181
chr12:113184223 G
G
C
C
2 a0001c0001t0001g0037
a0001c0001t0001g0147
a0001c0001t0001g0037
a0001c0001t0001g0147
3 HG02683.hp1
HG03688.hp1
HG03927.hp1
HG02683.hp1
HG03688.hp1
HG03927.hp1
intron_variant MODIFIER c.174+1055C>G
c.174+1055C>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113184223
chr12:113184362 G
G
A
A
3 a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
3 NA18960.hp2
NA18968.hp1
NA19065.hp1
NA18960.hp2
NA18968.hp1
NA19065.hp1
intron_variant MODIFIER c.174+916C>T
c.174+916C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113184362
chr12:113184381 C
C
T
T
1 a0020c0013t0011g0048
a0020c0013t0011g0048
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.174+897G>A
c.174+897G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113184381
chr12:113184400 C
C
G
G
17 a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
others(14): Show 
a0002c0002t0002g0003
a0002c0002t0002g0019
a0002c0002t0002g0020
a0002c0002t0002g0039
a0002c0002t0002g0040
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0043
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0006g0021
a0002c0002t0006g0038
a0002c0002t0008g0049
a0002c0002t0008g0050
a0002c0002t0010g0051
a0017c0014t0002g0044
a0020c0013t0011g0048
36 HG00408.hp1
HG00438.hp2
HG02071.hp1
others(33): Show 
HG00408.hp1
HG00438.hp2
HG02071.hp1
HG02155.hp2
HG04115.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18951.hp2
NA18954.hp2
NA18957.hp2
NA18960.hp2
NA18962.hp1
NA18968.hp1
NA18969.hp2
NA18972.hp1
NA18974.hp2
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA18998.hp1
NA19006.hp1
NA19012.hp2
NA19043.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp1
NA19079.hp2
NA19083.hp1
NA19085.hp1
intron_variant MODIFIER c.174+878G>C
c.174+878G>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113184400
chr12:113184436 G
G
T
T
1 a0001c0001t0001g0080
a0001c0001t0001g0080
1 NA18954.hp1
NA18954.hp1
intron_variant MODIFIER c.174+842C>A
c.174+842C>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113184436
chr12:113184678 T
T
C
C
1 a0001c0001t0001g0148
a0001c0001t0001g0148
1 HG02738.hp1
HG02738.hp1
intron_variant MODIFIER c.174+600A>G
c.174+600A>G
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113184678
chr12:113184716 C
C
T
T
1 a0002c0002t0006g0038
a0002c0002t0006g0038
1 NA19075.hp1
NA19075.hp1
intron_variant MODIFIER c.174+562G>A
c.174+562G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113184716
chr12:113184817 C
C
T
T
1 a0001c0022t0003g0079
a0001c0022t0003g0079
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.174+461G>A
c.174+461G>A
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113184817
chr12:113184911 A
A
G
G
13 a0001c0001t0001g0006
a0001c0001t0001g0009
a0001c0001t0001g0024
others(10): Show 
a0001c0001t0001g0006
a0001c0001t0001g0009
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
27 HG01069.hp2
HG01071.hp1
HG01071.hp2
others(24): Show 
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01346.hp1
HG01928.hp2
HG02602.hp1
HG03710.hp2
HG03831.hp2
NA18612.hp2
NA18942.hp2
NA18943.hp2
NA18950.hp1
NA18951.hp1
NA18956.hp1
NA18979.hp1
NA18984.hp2
NA18990.hp1
NA18994.hp2
NA19000.hp1
NA19005.hp2
NA19006.hp2
NA19009.hp2
NA19011.hp2
NA19074.hp2
NA19080.hp1
NA19090.hp1
NA20300.hp1
intron_variant MODIFIER c.174+367T>C
c.174+367T>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113184911
chr12:113184998 C
C
A
A
2 a0002c0004t0005g0023
a0002c0004t0005g0070
a0002c0004t0005g0023
a0002c0004t0005g0070
3 HG02717.hp2
HG03195.hp2
HG03486.hp1
HG02717.hp2
HG03195.hp2
HG03486.hp1
intron_variant MODIFIER c.174+280G>T
c.174+280G>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113184998
chr12:113185109 C
C
G
G
1 a0005c0005t0001g0008
a0005c0005t0001g0008
4 HG02258.hp1
HG02280.hp2
HG02647.hp1
others(1): Show 
HG02258.hp1
HG02280.hp2
HG02647.hp1
HG03453.hp2
intron_variant MODIFIER c.174+169G>C
c.174+169G>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113185109
chr12:113185195 C
C
G
G
1 a0003c0003t0003g0047
a0003c0003t0003g0047
1 HG03831.hp1
HG03831.hp1
intron_variant MODIFIER c.174+83G>C
c.174+83G>C
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113185195
chr12:113185223 G
G
A
A
1 a0002c0004t0005g0070
a0002c0004t0005g0070
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.174+55C>T
c.174+55C>T
DDX54 ENSG00000123064.13 transcript ENST00000306014.10 protein_coding 1/19 chr12 113185223

  • GeneCards
  • OpenTarget
  • The Human Protein Atlas
  • Gnomad v4.1.0
  • PhewebJP (Japan)
  • UKB-TOPMed (UMich) (UK and US)
  • FinnGen r11 (Finland)
  • KoGES (Korean)
  • Mouse Phenotype
  • Zebra Phenotype
  • TogoVar

  • DNA
  • Satellite
  • All Snps 1.4.2
  • RC
  • snRNA
  • SINE
  • GC %
  • Simple_repeat
  • RNA
  • Retroposon
  • Unknown
  • Low_complexity
  • LINE
  • scRNA
  • CpG Islands
  • Phastcons (20 way)
  • srpRNA
  • Common Snps 1.4.2
  • rRNA
  • LTR
  • tRNA

  • Axiom Genome-Wide Array (Japonica Array V1)
  • Axiom Genome-Wide Array (Japonica Array V2)
  • Axiom Genome-Wide ASI Array V1 (ASI V1)
​

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