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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   GTPBP6_chrX_299759_323796  GTPBP6_chrX_299759_323796 (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 8225
ensemblid ENSG00000178605.14
hgncid 30189
symbol GTPBP6
name GTP binding protein 6 (putative)
refseq_nuc NM_012227.4
refseq_prot NP_036359.3
ensembl_nuc ENST00000326153.10
ensembl_prot ENSP00000316598.5
mane_status MANE Select
chr chrX
start 304759
end 318796
strand -
ver v1.2
region chrX:304759-318796
region5000 chrX:299759-323796
regionname0 GTPBP6_chrX_304759_318796
regionname5000 GTPBP6_chrX_299759_323796

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/0 516 59 8 11 31 1 7 27 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0002 0/1 516 37 4 11 18 1 2 12 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0003 0/0 516 15 0 4 10 1 0 9 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0004 0/0 516 6 0 3 1 1 1 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0005 0/0 516 4 0 0 1 2 1 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0006 0/0 516 3 3 0 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0007 0/0 516 3 0 0 3 0 0 3 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0008 0/0 516 3 2 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0009 0/0 516 2 0 0 2 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0010 0/0 516 2 2 0 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0011 0/0 516 2 0 0 2 0 0 2 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0012 0/0 516 2 1 0 1 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0013 0/0 102 1 0 0 1 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0014 0/0 516 1 1 0 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0015 0/0 516 1 1 0 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0016 0/0 516 1 0 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0017 0/0 516 1 1 0 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0018 0/0 516 1 1 0 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0019 0/0 516 1 0 0 0 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0020 0/0 516 1 0 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0021 0/0 516 1 1 0 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0022 0/0 269 1 0 0 1 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0023 0/0 516 1 1 0 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0024 0/0 516 1 0 0 0 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0025 0/0 103 1 0 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0026 0/0 516 1 0 0 1 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0027 0/0 103 1 0 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0028 0/0 103 1 0 0 1 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0029 0/0 35 1 0 0 1 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 1551 39 0 5 28 1 5 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0002 0/1 1551 27 0 7 16 1 2 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0003 1/0 1551 19 7 6 3 0 2 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0004 0/0 1551 13 0 3 9 1 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0005 0/0 1551 7 2 3 2 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0006 0/0 1551 3 0 1 1 1 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0007 0/0 1551 3 0 2 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0008 0/0 1551 3 0 0 3 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0009 0/0 1551 3 2 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0010 0/0 1551 3 0 0 1 2 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0011 0/0 1551 3 3 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0012 0/0 1551 2 0 0 2 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0013 0/0 1551 2 1 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0014 0/0 1551 2 0 0 2 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0015 0/0 1549 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0016 0/0 1549 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0017 0/0 1552 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0018 0/0 1551 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0019 0/0 1551 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0020 0/0 1552 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0021 0/0 1551 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0022 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0023 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0024 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0025 0/0 1551 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0026 0/0 1551 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0027 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0028 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0029 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0030 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0031 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0032 0/0 1551 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0033 0/0 1552 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0034 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0035 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0036 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0037 0/0 1551 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0038 0/0 1551 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0039 0/0 1551 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
c0040 0/0 1552 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 325 68 8 15 35 3 5 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
t0002 0/0 325 64 3 14 39 2 6 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
t0003 0/0 325 16 8 5 0 1 2 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
t0004 0/0 325 4 4 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
t0005 0/0 325 3 3 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 2 2 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0002 0/0 2 0 2 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0003 0/0 2 0 0 2 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0004 0/0 2 0 2 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0005 0/0 2 0 2 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0006 0/0 2 0 2 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0007 0/0 2 0 0 2 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0008 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0009 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0010 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0011 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0012 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0013 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0014 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0015 0/0 1 0 0 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0016 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0017 0/0 1 0 0 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0018 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0019 0/0 1 0 0 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0020 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0021 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0022 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0023 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0024 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0025 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0026 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0027 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0028 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0029 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0030 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0031 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0032 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0033 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0034 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0035 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0036 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0037 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0038 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0039 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0040 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0041 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0042 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0043 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0044 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0045 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0046 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0047 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0048 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0049 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0050 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0051 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0052 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0053 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0054 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0055 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0056 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0057 0/0 1 0 0 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0058 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0059 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0060 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0061 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0062 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0063 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0064 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0065 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0066 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0067 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0068 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0069 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0070 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0071 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0072 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0073 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0074 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0075 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0076 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0077 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0078 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0079 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0080 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0081 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0082 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0083 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0084 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0085 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0086 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0087 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0088 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0089 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0090 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0091 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0092 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0093 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0094 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0095 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0096 0/0 1 0 0 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0097 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0098 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0099 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0100 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0101 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0102 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0103 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0104 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0105 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0106 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0107 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0108 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0109 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0110 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0111 1/0 1 0 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0112 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0113 0/0 1 0 0 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0114 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0115 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0116 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0117 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0118 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0119 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0120 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0121 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0122 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0123 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0124 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0125 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0126 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0127 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0128 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0129 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0130 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0131 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0132 0/1 1 0 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0133 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0134 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0135 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0136 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0137 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0138 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0139 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0140 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0141 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0142 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0143 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0144 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0145 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0146 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0147 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
g0148 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 1551 39 0 5 28 1 5 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0001c0003 1/0 1551 19 7 6 3 0 2 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0001c0024 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0002c0002 0/1 1551 27 0 7 16 1 2 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0002c0005 0/0 1551 7 2 3 2 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0002c0034 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0002c0036 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0002c0037 0/0 1551 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0003c0004 0/0 1551 13 0 3 9 1 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0003c0038 0/0 1551 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0003c0039 0/0 1551 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0004c0006 0/0 1551 3 0 1 1 1 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0004c0007 0/0 1551 3 0 2 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0005c0010 0/0 1551 3 0 0 1 2 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0005c0019 0/0 1551 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0006c0011 0/0 1551 3 3 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0007c0008 0/0 1551 3 0 0 3 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0008c0009 0/0 1551 3 2 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0009c0012 0/0 1551 2 0 0 2 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0010c0029 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0010c0031 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0011c0014 0/0 1551 2 0 0 2 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0012c0013 0/0 1551 2 1 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0013c0016 0/0 1549 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0014c0023 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0015c0022 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0016c0021 0/0 1551 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0017c0028 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0018c0030 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0019c0026 0/0 1551 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0020c0025 0/0 1551 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0021c0027 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0022c0033 0/0 1552 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0023c0035 0/0 1551 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0024c0032 0/0 1551 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0025c0020 0/0 1552 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0026c0018 0/0 1551 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0027c0040 0/0 1552 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0028c0017 0/0 1552 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0029c0015 0/0 1549 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 1875 6 0 2 4 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0001c0001t0002 0/0 1875 33 0 3 24 1 5 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0001c0003t0001 1/0 1875 10 2 4 3 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0001c0003t0002 0/0 1875 3 3 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0001c0003t0003 0/0 1875 6 2 2 0 0 2 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0001c0024t0003 0/0 1875 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0002c0002t0001 0/1 1875 26 0 7 15 1 2 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0002c0002t0002 0/0 1875 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0002c0005t0001 0/0 1875 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0002c0005t0002 0/0 1875 5 0 3 2 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0002c0005t0004 0/0 1875 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0002c0034t0003 0/0 1875 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0002c0036t0001 0/0 1875 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0002c0037t0003 0/0 1875 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0003c0004t0001 0/0 1875 4 0 1 3 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0003c0004t0002 0/0 1875 9 0 2 6 1 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0003c0038t0001 0/0 1875 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0003c0039t0002 0/0 1875 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0004c0006t0001 0/0 1875 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0004c0006t0003 0/0 1875 2 0 1 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0004c0007t0002 0/0 1875 3 0 2 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0005c0010t0001 0/0 1875 3 0 0 1 2 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0005c0019t0001 0/0 1875 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0006c0011t0003 0/0 1875 3 3 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0007c0008t0001 0/0 1875 3 0 0 3 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0008c0009t0001 0/0 1875 3 2 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0009c0012t0002 0/0 1875 2 0 0 2 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0010c0029t0005 0/0 1875 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0010c0031t0005 0/0 1875 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0011c0014t0001 0/0 1875 2 0 0 2 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0012c0013t0001 0/0 1875 2 1 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0013c0016t0002 0/0 1873 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0014c0023t0001 0/0 1875 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0015c0022t0004 0/0 1875 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0016c0021t0003 0/0 1875 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0017c0028t0005 0/0 1875 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0018c0030t0003 0/0 1875 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0019c0026t0001 0/0 1875 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0020c0025t0002 0/0 1875 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0021c0027t0004 0/0 1875 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0022c0033t0002 0/0 1876 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0023c0035t0004 0/0 1875 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0024c0032t0001 0/0 1875 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0025c0020t0002 0/0 1876 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0026c0018t0002 0/0 1875 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0027c0040t0002 0/0 1876 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0028c0017t0002 0/0 1876 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796
a0029c0015t0001 0/0 1873 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 copy fasta chrX 299759 323796

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0002 0/0 2 0 2 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0001g0036 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0001g0039 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0001g0045 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0001g0098 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0003 0/0 2 0 0 2 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0004 0/0 2 0 2 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0027 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0029 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0030 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0032 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0033 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0034 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0035 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0037 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0038 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0040 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0043 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0044 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0047 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0050 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0052 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0054 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0055 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0056 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0057 0/0 1 0 0 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0058 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0059 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0060 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0062 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0063 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0064 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0065 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0066 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0067 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0001t0002g0069 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0001g0005 0/0 2 0 2 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0001g0031 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0001g0046 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0001g0049 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0001g0053 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0001g0072 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0001g0081 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0001g0105 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0001g0111 1/0 1 0 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0002g0084 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0002g0085 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0002g0101 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0003g0028 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0003g0061 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0003g0070 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0003g0107 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0003g0112 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0003t0003g0145 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0001c0024t0003g0106 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0068 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0074 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0109 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0110 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0113 0/0 1 0 0 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0114 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0115 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0116 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0117 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0118 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0119 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0120 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0122 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0124 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0126 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0127 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0128 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0129 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0131 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0132 0/1 1 0 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0135 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0136 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0137 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0138 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0139 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0001g0141 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0002t0002g0125 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0005t0001g0079 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0005t0002g0006 0/0 2 0 2 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0005t0002g0121 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0005t0002g0123 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0005t0002g0130 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0005t0004g0076 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0034t0003g0073 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0036t0001g0071 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0002c0037t0003g0133 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0004t0001g0086 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0004t0001g0089 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0004t0001g0091 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0004t0001g0092 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0004t0002g0080 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0004t0002g0087 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0004t0002g0088 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0004t0002g0090 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0004t0002g0093 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0004t0002g0095 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0004t0002g0096 0/0 1 0 0 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0004t0002g0099 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0004t0002g0100 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0038t0001g0097 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0003c0039t0002g0094 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0004c0006t0001g0020 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0004c0006t0003g0013 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0004c0006t0003g0015 0/0 1 0 0 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0004c0007t0002g0012 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0004c0007t0002g0014 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0004c0007t0002g0025 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0005c0010t0001g0017 0/0 1 0 0 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0005c0010t0001g0019 0/0 1 0 0 0 1 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0005c0010t0001g0024 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0005c0019t0001g0022 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0006c0011t0003g0142 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0006c0011t0003g0143 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0006c0011t0003g0144 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0007c0008t0001g0011 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0007c0008t0001g0021 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0007c0008t0001g0023 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0008c0009t0001g0001 0/0 2 2 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0008c0009t0001g0016 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0009c0012t0002g0041 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0009c0012t0002g0042 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0010c0029t0005g0077 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0010c0031t0005g0104 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0011c0014t0001g0007 0/0 2 0 0 2 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0012c0013t0001g0134 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0012c0013t0001g0146 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0013c0016t0002g0009 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0014c0023t0001g0075 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0015c0022t0004g0103 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0016c0021t0003g0082 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0017c0028t0005g0078 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0018c0030t0003g0102 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0019c0026t0001g0048 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0020c0025t0002g0051 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0021c0027t0004g0083 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0022c0033t0002g0140 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0023c0035t0004g0147 0/0 1 1 0 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0024c0032t0001g0108 0/0 1 0 0 0 0 1 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0025c0020t0002g0026 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0026c0018t0002g0018 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0027c0040t0002g0148 0/0 1 0 1 0 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0028c0017t0002g0010 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
a0029c0015t0001g0008 0/0 1 0 0 1 0 0 GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0002 c0002 t0001 g0113 EUR GBR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00099 hp2 a0005 c0010 t0001 g0019 EUR GBR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00140 hp2 a0004 c0006 t0003 g0015 EUR GBR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00280 hp2 a0005 c0010 t0001 g0017 EUR FIN GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00408 hp1 a0002 c0002 t0001 g0126 EAS CHS GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00408 hp2 a0001 c0001 t0001 g0045 EAS CHS GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00423 hp1 a0009 c0012 t0002 g0042 EAS CHS GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00423 hp2 a0002 c0002 t0001 g0136 EAS CHS GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00558 hp1 a0002 c0002 t0001 g0129 EAS CHS GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00558 hp2 a0001 c0001 t0002 g0055 EAS CHS GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00639 hp1 a0008 c0009 t0001 g0016 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00639 hp2 a0002 c0005 t0002 g0006 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00642 hp1 a0001 c0003 t0001 g0049 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00733 hp1 a0001 c0001 t0002 g0047 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00733 hp2 a0002 c0002 t0001 g0124 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00735 hp1 a0004 c0007 t0002 g0014 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00735 hp2 a0002 c0037 t0003 g0133 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00741 hp1 a0001 c0003 t0001 g0072 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG00741 hp2 a0001 c0003 t0003 g0028 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01070 hp1 a0001 c0003 t0001 g0005 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01070 hp2 a0001 c0001 t0001 g0002 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01071 hp1 a0002 c0002 t0001 g0109 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01071 hp2 a0001 c0003 t0001 g0005 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01074 hp2 a0020 c0025 t0002 g0051 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01109 hp2 a0001 c0001 t0001 g0002 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01167 hp1 a0002 c0005 t0002 g0006 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01169 hp1 a0025 c0020 t0002 g0026 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01169 hp2 a0002 c0002 t0001 g0074 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01175 hp1 a0002 c0002 t0001 g0138 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01175 hp2 a0004 c0007 t0002 g0012 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01243 hp2 a0016 c0021 t0003 g0082 AMR PUR GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01346 hp1 a0002 c0002 t0001 g0137 AMR CLM GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01346 hp2 a0004 c0006 t0003 g0013 AMR CLM GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01361 hp1 a0003 c0004 t0002 g0095 AMR CLM GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01361 hp2 a0027 c0040 t0002 g0148 AMR CLM GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01433 hp1 a0002 c0002 t0001 g0110 AMR CLM GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01515 hp1 a0003 c0004 t0002 g0096 EUR IBS GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01943 hp1 a0001 c0001 t0002 g0004 AMR PEL GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01993 hp1 a0003 c0004 t0001 g0089 AMR PEL GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01993 hp2 a0003 c0039 t0002 g0094 AMR PEL GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02027 hp2 a0001 c0001 t0002 g0064 EAS KHV GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02040 hp1 a0002 c0002 t0001 g0135 EAS KHV GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02055 hp1 a0001 c0003 t0002 g0101 AFR ACB GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02080 hp1 a0003 c0004 t0002 g0090 EAS KHV GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02080 hp2 a0005 c0010 t0001 g0024 EAS KHV GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02129 hp2 a0002 c0002 t0002 g0125 EAS KHV GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02155 hp1 a0002 c0002 t0001 g0122 EAS CDX GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02155 hp2 a0001 c0001 t0002 g0027 EAS CDX GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02258 hp2 a0012 c0013 t0001 g0146 AFR ACB GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02273 hp1 a0002 c0005 t0002 g0121 AMR PEL GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02273 hp2 a0001 c0001 t0002 g0004 AMR PEL GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02300 hp1 a0003 c0004 t0002 g0093 AMR PEL GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02451 hp1 a0001 c0003 t0002 g0085 AFR ACB GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02451 hp2 a0008 c0009 t0001 g0001 AFR ACB GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02615 hp1 a0021 c0027 t0004 g0083 AFR GWD GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02615 hp2 a0001 c0003 t0003 g0145 AFR GWD GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02647 hp2 a0001 c0024 t0003 g0106 AFR GWD GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02717 hp1 a0002 c0005 t0001 g0079 AFR GWD GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02735 hp2 a0005 c0019 t0001 g0022 SAS PJL GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02965 hp1 a0006 c0011 t0003 g0142 AFR ESN GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02970 hp1 a0002 c0034 t0003 g0073 AFR ESN GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02970 hp2 a0014 c0023 t0001 g0075 AFR ESN GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG03017 hp1 a0001 c0003 t0003 g0061 SAS PJL GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG03130 hp2 a0002 c0036 t0001 g0071 AFR ESN GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG03195 hp1 a0023 c0035 t0004 g0147 AFR ESN GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG03195 hp2 a0017 c0028 t0005 g0078 AFR ESN GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG03490 hp2 a0001 c0001 t0002 g0059 SAS PJL GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG03491 hp1 a0002 c0002 t0001 g0131 SAS PJL GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG03491 hp2 a0001 c0001 t0002 g0067 SAS PJL GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG03579 hp2 a0006 c0011 t0003 g0143 AFR MSL GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG03654 hp2 a0002 c0002 t0001 g0139 SAS PJL GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG03831 hp1 a0004 c0007 t0002 g0025 SAS BEB GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG03831 hp2 a0001 c0003 t0003 g0070 SAS BEB GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG03834 hp1 a0001 c0001 t0002 g0052 SAS BEB GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG03834 hp2 a0024 c0032 t0001 g0108 SAS BEB GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG03942 hp2 a0019 c0026 t0001 g0048 SAS BEB GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG04115 hp2 a0001 c0001 t0002 g0060 SAS STU GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG04228 hp1 a0001 c0001 t0002 g0054 SAS STU GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18522 hp1 a0010 c0029 t0005 g0077 AFR YRI GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18906 hp1 a0010 c0031 t0005 g0104 AFR YRI GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18906 hp2 a0002 c0005 t0004 g0076 AFR YRI GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18941 hp1 a0007 c0008 t0001 g0011 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18941 hp2 a0001 c0001 t0002 g0037 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18942 hp1 a0002 c0002 t0001 g0128 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18942 hp2 a0004 c0006 t0001 g0020 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18949 hp1 a0001 c0001 t0001 g0039 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18949 hp2 a0011 c0014 t0001 g0007 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18950 hp1 a0001 c0001 t0002 g0069 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18950 hp2 a0002 c0002 t0001 g0117 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18951 hp1 a0001 c0003 t0001 g0053 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18951 hp2 a0007 c0008 t0001 g0023 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18952 hp1 a0001 c0001 t0002 g0033 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18953 hp1 a0001 c0001 t0002 g0050 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18956 hp1 a0001 c0001 t0002 g0030 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18956 hp2 a0002 c0002 t0001 g0068 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18957 hp1 a0001 c0001 t0002 g0043 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18957 hp2 a0011 c0014 t0001 g0007 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18960 hp2 a0001 c0001 t0002 g0034 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18961 hp1 a0002 c0002 t0001 g0127 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18964 hp1 a0029 c0015 t0001 g0008 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18964 hp2 a0002 c0002 t0001 g0119 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18967 hp1 a0002 c0002 t0001 g0141 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18973 hp1 a0022 c0033 t0002 g0140 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18973 hp2 a0001 c0001 t0002 g0066 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18977 hp2 a0002 c0002 t0001 g0118 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18983 hp1 a0001 c0003 t0001 g0031 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18984 hp1 a0001 c0001 t0002 g0032 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18985 hp1 a0001 c0001 t0002 g0038 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18991 hp1 a0001 c0001 t0002 g0062 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18991 hp2 a0003 c0004 t0002 g0080 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18992 hp1 a0002 c0005 t0002 g0130 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18992 hp2 a0003 c0004 t0001 g0086 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18993 hp1 a0001 c0001 t0002 g0040 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18993 hp2 a0003 c0004 t0002 g0087 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18994 hp1 a0001 c0001 t0002 g0063 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18999 hp1 a0001 c0001 t0002 g0058 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA18999 hp2 a0001 c0001 t0001 g0098 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19000 hp1 a0001 c0001 t0002 g0065 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19002 hp1 a0001 c0001 t0002 g0003 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19002 hp2 a0002 c0002 t0001 g0120 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19011 hp1 a0003 c0004 t0001 g0091 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19011 hp2 a0001 c0001 t0002 g0029 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19043 hp2 a0001 c0003 t0001 g0105 AFR LWK GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19055 hp2 a0003 c0004 t0002 g0088 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19057 hp1 a0002 c0002 t0001 g0115 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19057 hp2 a0007 c0008 t0001 g0021 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19058 hp2 a0003 c0038 t0001 g0097 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19062 hp1 a0003 c0004 t0002 g0099 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19063 hp1 a0002 c0005 t0002 g0123 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19064 hp1 a0003 c0004 t0002 g0100 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19064 hp2 a0001 c0001 t0002 g0035 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19070 hp1 a0003 c0004 t0001 g0092 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19077 hp1 a0026 c0018 t0002 g0018 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19077 hp2 a0001 c0003 t0001 g0046 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19078 hp1 a0001 c0001 t0002 g0044 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19078 hp2 a0013 c0016 t0002 g0009 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19080 hp1 a0001 c0001 t0002 g0003 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19080 hp2 a0001 c0001 t0002 g0056 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19081 hp1 a0002 c0002 t0001 g0116 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19081 hp2 a0009 c0012 t0002 g0041 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19082 hp1 a0012 c0013 t0001 g0134 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19085 hp2 a0001 c0001 t0001 g0036 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA19089 hp1 a0028 c0017 t0002 g0010 EAS JPT GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA20129 hp1 a0018 c0030 t0003 g0102 AFR ASW GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA20129 hp2 a0001 c0003 t0003 g0112 AFR ASW GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
NA20805 hp1 a0001 c0001 t0002 g0057 EUR TSI GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01123 hp1 a0001 c0003 t0003 g0107 AMR CLM GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG01123 hp2 a0002 c0002 t0001 g0114 AMR CLM GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02109 hp1 a0008 c0009 t0001 g0001 AFR ACB GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02109 hp2 a0001 c0003 t0002 g0084 AFR ACB GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG02486 hp1 a0015 c0022 t0004 g0103 AFR ACB GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG06807 hp1 a0006 c0011 t0003 g0144 AFR USA GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
HG06807 hp2 a0001 c0003 t0001 g0081 AFR USA GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
homoSapiens_chm13v2 hp1 a0002 c0002 t0001 g0132 REF REF GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796
homoSapiens_grch38 hp1 a0001 c0003 t0001 g0111 REF REF GTPBP6_chrX_299759_323796 GTPBP6 chrX 299759 323796

chr:pos ref alt #
# of ahapid:amino-acid(protein) level
 ahapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chrX:305128 C
C
 G
G
 4 a0006
a0010
a0016
others(1): Show 
a0006
a0010
a0016
a0017
 7 HG01243.hp2
HG02965.hp1
HG03195.hp2
others(4): Show 
HG01243.hp2
HG02965.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
 missense_variant MODERATE c.1497G>C
c.1497G>C
 p.Arg499Ser
p.Arg499Ser
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 10/10 1506/1875 1497/1551 499/516 chrX 305128
chrX:307865 C
C
 A
A
 1 a0023
a0023
 1 HG03195.hp1
HG03195.hp1
 missense_variant MODERATE c.1141G>T
c.1141G>T
 p.Val381Leu
p.Val381Leu
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 8/10 1150/1875 1141/1551 381/516 chrX 307865
chrX:307865 C
C
 T
T
 1 a0020
a0020
 1 HG01074.hp2
HG01074.hp2
 missense_variant MODERATE c.1141G>A
c.1141G>A
 p.Val381Met
p.Val381Met
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 8/10 1150/1875 1141/1551 381/516 chrX 307865
chrX:311445 C
C
 A
A
 1 a0023
a0023
 1 HG03195.hp1
HG03195.hp1
 missense_variant MODERATE c.1099G>T
c.1099G>T
 p.Ala367Ser
p.Ala367Ser
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/10 1108/1875 1099/1551 367/516 chrX 311445
chrX:312826 G
G
 A
A
 7 a0005
a0007
a0011
others(4): Show 
a0005
a0007
a0011
a0012
a0014
a0019
a0026
 14 HG00099.hp2
HG00280.hp2
HG02080.hp2
others(11): Show 
HG00099.hp2
HG00280.hp2
HG02080.hp2
HG02258.hp2
HG02735.hp2
HG02970.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
NA19077.hp1
NA19082.hp1
 missense_variant MODERATE c.856C>T
c.856C>T
 p.Arg286Cys
p.Arg286Cys
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/10 865/1875 856/1551 286/516 chrX 312826
chrX:312897 C
C
 T
T
 1 a0017
a0017
 1 HG03195.hp2
HG03195.hp2
 missense_variant MODERATE c.785G>A
c.785G>A
 p.Arg262His
p.Arg262His
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/10 794/1875 785/1551 262/516 chrX 312897
chrX:314211 G
G
 GT
GT
 1 a0022
a0022
 1 NA18973.hp1
NA18973.hp1
 frameshift_variant HIGH c.695dupA
c.695dupA
 p.Asn232fs
p.Asn232fs
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/10 704/1875 695/1551 232/516 chrX 314211
chrX:314915 C
C
 T
T
 1 a0024
a0024
 1 HG03834.hp2
HG03834.hp2
 missense_variant MODERATE c.664G>A
c.664G>A
 p.Ala222Thr
p.Ala222Thr
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/10 673/1875 664/1551 222/516 chrX 314915
chrX:314945 C
C
 T
T
 1 a0026
a0026
 1 NA19077.hp1
NA19077.hp1
 missense_variant MODERATE c.634G>A
c.634G>A
 p.Ala212Thr
p.Ala212Thr
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/10 643/1875 634/1551 212/516 chrX 314945
chrX:314982 G
G
 C
C
 1 a0021
a0021
 1 HG02615.hp1
HG02615.hp1
 missense_variant MODERATE c.597C>G
c.597C>G
 p.Asp199Glu
p.Asp199Glu
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/10 606/1875 597/1551 199/516 chrX 314982
chrX:315246 T
T
 G
G
 5 a0003
a0010
a0011
others(2): Show 
a0003
a0010
a0011
a0017
a0018
 21 HG01361.hp1
HG01515.hp1
HG01993.hp1
others(18): Show 
HG01361.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02080.hp1
HG02300.hp1
HG03195.hp2
NA18522.hp1
NA18906.hp1
NA18949.hp2
NA18957.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19011.hp1
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp1
NA20129.hp1
 missense_variant MODERATE c.541A>C
c.541A>C
 p.Met181Leu
p.Met181Leu
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 3/10 550/1875 541/1551 181/516 chrX 315246
chrX:315272 G
G
 C
C
 1 a0009
a0009
 2 HG00423.hp1
NA19081.hp2
HG00423.hp1
NA19081.hp2
 missense_variant MODERATE c.515C>G
c.515C>G
 p.Thr172Arg
p.Thr172Arg
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 3/10 524/1875 515/1551 172/516 chrX 315272
chrX:315276 T
T
 C
C
 12 a0002
a0003
a0005
others(9): Show 
a0002
a0003
a0005
a0008
a0011
a0012
a0013
a0022
a0023
a0024
a0026
a0027
 69 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(66): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp1
HG03130.hp2
HG03195.hp1
HG03491.hp1
HG03654.hp2
HG03834.hp2
NA18906.hp2
NA18942.hp1
NA18949.hp2
NA18950.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19055.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.511A>G
c.511A>G
 p.Ile171Val
p.Ile171Val
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 3/10 520/1875 511/1551 171/516 chrX 315276
chrX:316987 C
C
 G
G
 3 a0014
a0015
a0016
a0014
a0015
a0016
 3 HG01243.hp2
HG02486.hp1
HG02970.hp2
HG01243.hp2
HG02486.hp1
HG02970.hp2
 missense_variant MODERATE c.414G>C
c.414G>C
 p.Gln138His
p.Gln138His
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/10 423/1875 414/1551 138/516 chrX 316987
chrX:318481 G
G
 GT
GT
 1 a0025
a0025
 1 HG01169.hp1
HG01169.hp1
 frameshift_variant HIGH c.306_307insA
c.306_307insA
 p.Pro103fs
p.Pro103fs
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/10 315/1875 306/1551 102/516 chrX 318481
chrX:318566 TTCC
TTCC
 T
T
 1 a0013
a0013
 1 NA19078.hp2
NA19078.hp2
 disruptive_inframe_deletion MODERATE c.219_221delGGA
c.219_221delGGA
 p.Glu74del
p.Glu74del
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/10 230/1875 219/1551 73/516 chrX 318566
chrX:318567 TC
TC
 T
T
 1 a0029
a0029
 1 NA18964.hp1
NA18964.hp1
 frameshift_variant HIGH c.220delG
c.220delG
 p.Glu74fs
p.Glu74fs
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/10 229/1875 220/1551 74/516 chrX 318567
chrX:318607 C
C
 G
G
 6 a0004
a0005
a0007
others(3): Show 
a0004
a0005
a0007
a0008
a0026
a0029
 18 HG00099.hp2
HG00140.hp2
HG00280.hp2
others(15): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00639.hp1
HG00735.hp1
HG01175.hp2
HG01346.hp2
HG02080.hp2
HG02109.hp1
HG02451.hp2
HG02735.hp2
HG03831.hp1
NA18941.hp1
NA18942.hp2
NA18951.hp2
NA18964.hp1
NA19057.hp2
NA19077.hp1
 missense_variant MODERATE c.181G>C
c.181G>C
 p.Gly61Arg
p.Gly61Arg
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/10 190/1875 181/1551 61/516 chrX 318607
chrX:318612 G
G
 GC
GC
 1 a0027
a0027
 1 HG01361.hp2
HG01361.hp2
 frameshift_variant HIGH c.175dupG
c.175dupG
 p.Ala59fs
p.Ala59fs
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/10 184/1875 175/1551 59/516 chrX 318612
chrX:318691 C
C
 CG
CG
 1 a0028
a0028
 1 NA19089.hp1
NA19089.hp1
 frameshift_variant HIGH c.96dupC
c.96dupC
 p.Ala33fs
p.Ala33fs
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/10 105/1875 96/1551 32/516 chrX 318691
chrX:318741 C
C
 CG
CG
 1 a0013
a0013
 1 NA19078.hp2
NA19078.hp2
 frameshift_variant HIGH c.46dupC
c.46dupC
 p.Arg16fs
p.Arg16fs
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/10 55/1875 46/1551 16/516 chrX 318741
chrX:318771 GC
GC
 G
G
 1 a0029
a0029
 1 NA18964.hp1
NA18964.hp1
 frameshift_variant HIGH c.16delG
c.16delG
 p.Ala6fs
p.Ala6fs
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/10 25/1875 16/1551 6/516 chrX 318771

chr:pos ref alt #
# of chapid
 chapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chrX:307413 C
C
 T
T
 1 a0003c0038
a0003c0038
 1 NA19058.hp2
NA19058.hp2
 synonymous_variant LOW c.1374G>A
c.1374G>A
 p.Ala458Ala
p.Ala458Ala
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/10 1383/1875 1374/1551 458/516 chrX 307413
chrX:311458 G
G
 A
A
 1 a0002c0036
a0002c0036
 1 HG03130.hp2
HG03130.hp2
 synonymous_variant LOW c.1086C>T
c.1086C>T
 p.Ile362Ile
p.Ile362Ile
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/10 1095/1875 1086/1551 362/516 chrX 311458
chrX:311503 G
G
 A
A
 1 a0002c0037
a0002c0037
 1 HG00735.hp2
HG00735.hp2
 synonymous_variant LOW c.1041C>T
c.1041C>T
 p.Tyr347Tyr
p.Tyr347Tyr
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/10 1050/1875 1041/1551 347/516 chrX 311503
chrX:312794 C
C
 A
A
 1 a0002c0034
a0002c0034
 1 HG02970.hp1
HG02970.hp1
 synonymous_variant LOW c.888G>T
c.888G>T
 p.Val296Val
p.Val296Val
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/10 897/1875 888/1551 296/516 chrX 312794
chrX:312875 G
G
 A
A
 20 a0001c0001
a0002c0005
a0003c0004
others(17): Show 
a0001c0001
a0002c0005
a0003c0004
a0004c0007
a0005c0010
a0005c0019
a0007c0008
a0009c0012
a0010c0031
a0011c0014
a0012c0013
a0013c0016
a0014c0023
a0017c0028
a0019c0026
a0020c0025
a0022c0033
a0026c0018
a0027c0040
a0028c0017
 85 HG00099.hp2
HG00280.hp2
HG00408.hp2
others(82): Show 
HG00099.hp2
HG00280.hp2
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20805.hp1
 synonymous_variant LOW c.807C>T
c.807C>T
 p.Ala269Ala
p.Ala269Ala
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/10 816/1875 807/1551 269/516 chrX 312875
chrX:312890 C
C
 T
T
 2 a0001c0024
a0002c0034
a0001c0024
a0002c0034
 2 HG02647.hp2
HG02970.hp1
HG02647.hp2
HG02970.hp1
 synonymous_variant LOW c.792G>A
c.792G>A
 p.Leu264Leu
p.Leu264Leu
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/10 801/1875 792/1551 264/516 chrX 312890
chrX:315256 G
G
 A
A
 1 a0005c0019
a0005c0019
 1 HG02735.hp2
HG02735.hp2
 synonymous_variant LOW c.531C>T
c.531C>T
 p.Asn177Asn
p.Asn177Asn
 GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 3/10 540/1875 531/1551 177/516 chrX 315256

chr:pos ref alt #
# of thapid:transcript level
 thapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chrX:304764 T
T
 A
A
 22 a0001c0001t0002
a0001c0003t0002
a0002c0002t0002
others(19): Show 
a0001c0001t0002
a0001c0003t0002
a0002c0002t0002
a0002c0005t0002
a0002c0005t0004
a0003c0004t0002
a0003c0039t0002
a0004c0007t0002
a0009c0012t0002
a0010c0029t0005
a0010c0031t0005
a0013c0016t0002
a0015c0022t0004
a0017c0028t0005
a0020c0025t0002
a0021c0027t0004
a0022c0033t0002
a0023c0035t0004
a0025c0020t0002
a0026c0018t0002
a0027c0040t0002
a0028c0017t0002
 71 HG00423.hp1
HG00558.hp2
HG00639.hp2
others(68): Show 
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01074.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp2
HG02027.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19089.hp1
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*310A>T
c.*310A>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 10/10 310 chrX 304764
chrX:304921 T
T
 C
C
 3 a0010c0029t0005
a0010c0031t0005
a0017c0028t0005
a0010c0029t0005
a0010c0031t0005
a0017c0028t0005
 3 HG03195.hp2
NA18522.hp1
NA18906.hp1
HG03195.hp2
NA18522.hp1
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*153A>G
c.*153A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 10/10 153 chrX 304921
chrX:305038 G
G
 A
A
 15 a0001c0003t0003
a0001c0024t0003
a0002c0005t0004
others(12): Show 
a0001c0003t0003
a0001c0024t0003
a0002c0005t0004
a0002c0034t0003
a0002c0037t0003
a0004c0006t0003
a0006c0011t0003
a0010c0029t0005
a0010c0031t0005
a0015c0022t0004
a0016c0021t0003
a0017c0028t0005
a0018c0030t0003
a0021c0027t0004
a0023c0035t0004
 23 HG00140.hp2
HG00735.hp2
HG00741.hp2
others(20): Show 
HG00140.hp2
HG00735.hp2
HG00741.hp2
HG01123.hp1
HG01243.hp2
HG01346.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03195.hp1
HG03195.hp2
HG03579.hp2
HG03831.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA20129.hp1
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*36C>T
c.*36C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 10/10 36 chrX 305038

chr:pos ref alt #
# of ghapid:genebody level
 ghapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid genebody_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chrX:305272 C
C
 G
G
 8 a0001c0003t0001g0072
a0007c0008t0001g0011
a0007c0008t0001g0021
others(5): Show 
a0001c0003t0001g0072
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 9 HG00741.hp1
HG02258.hp2
HG02970.hp2
others(6): Show 
HG00741.hp1
HG02258.hp2
HG02970.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1428-75G>C
c.1428-75G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305272
chrX:305319 C
C
 CTT
CTT
 1 a0001c0003t0002g0101
a0001c0003t0002g0101
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1428-124_1428-123d
others(4): Show 
c.1428-124_1428-123dupAA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305319
chrX:305324 G
G
 GT
GT
 13 a0002c0002t0001g0114
a0002c0036t0001g0071
a0007c0008t0001g0011
others(10): Show 
a0002c0002t0001g0114
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
a0026c0018t0002g0018
 14 HG01123.hp2
HG02258.hp2
HG02970.hp2
others(11): Show 
HG01123.hp2
HG02258.hp2
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03942.hp2
NA18522.hp1
NA18906.hp1
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
NA19077.hp1
 intron_variant MODIFIER c.1428-128dupA
c.1428-128dupA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305324
chrX:305324 G
G
 GTT
GTT
 1 a0001c0003t0001g0072
a0001c0003t0001g0072
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1428-129_1428-128d
others(4): Show 
c.1428-129_1428-128dupAA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305324
chrX:305324 G
G
 GTTT
GTTT
 3 a0001c0003t0002g0084
a0001c0003t0002g0085
a0023c0035t0004g0147
a0001c0003t0002g0084
a0001c0003t0002g0085
a0023c0035t0004g0147
 3 HG02109.hp2
HG02451.hp1
HG03195.hp1
HG02109.hp2
HG02451.hp1
HG03195.hp1
 intron_variant MODIFIER c.1428-130_1428-128d
others(5): Show 
c.1428-130_1428-128dupAAA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305324
chrX:305324 G
G
 T
T
 1 a0001c0003t0002g0101
a0001c0003t0002g0101
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1428-127C>A
c.1428-127C>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305324
chrX:305324 GT
GT
 G
G
 4 a0001c0001t0002g0032
a0001c0001t0002g0038
a0002c0002t0001g0131
others(1): Show 
a0001c0001t0002g0032
a0001c0001t0002g0038
a0002c0002t0001g0131
a0015c0022t0004g0103
 4 HG02486.hp1
HG03491.hp1
NA18984.hp1
others(1): Show 
HG02486.hp1
HG03491.hp1
NA18984.hp1
NA18985.hp1
 intron_variant MODIFIER c.1428-128delA
c.1428-128delA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305324
chrX:305329 T
T
 G
G
 1 a0004c0006t0003g0015
a0004c0006t0003g0015
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.1428-132A>C
c.1428-132A>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305329
chrX:305353 A
A
 G
G
 1 a0001c0003t0002g0101
a0001c0003t0002g0101
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1428-156T>C
c.1428-156T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305353
chrX:305363 G
G
 C
C
 5 a0001c0003t0002g0101
a0001c0003t0003g0145
a0010c0029t0005g0077
others(2): Show 
a0001c0003t0002g0101
a0001c0003t0003g0145
a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
 5 HG02055.hp1
HG02615.hp2
HG03195.hp2
others(2): Show 
HG02055.hp1
HG02615.hp2
HG03195.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.1428-166C>G
c.1428-166C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305363
chrX:305364 T
T
 C
C
 5 a0001c0003t0002g0101
a0001c0003t0003g0145
a0010c0029t0005g0077
others(2): Show 
a0001c0003t0002g0101
a0001c0003t0003g0145
a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
 5 HG02055.hp1
HG02615.hp2
HG03195.hp2
others(2): Show 
HG02055.hp1
HG02615.hp2
HG03195.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.1428-167A>G
c.1428-167A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305364
chrX:305373 G
G
 A
A
 1 a0001c0003t0003g0028
a0001c0003t0003g0028
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1428-176C>T
c.1428-176C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305373
chrX:305377 A
A
 G
G
 4 a0001c0003t0002g0084
a0001c0003t0002g0085
a0021c0027t0004g0083
others(1): Show 
a0001c0003t0002g0084
a0001c0003t0002g0085
a0021c0027t0004g0083
a0023c0035t0004g0147
 4 HG02109.hp2
HG02451.hp1
HG02615.hp1
others(1): Show 
HG02109.hp2
HG02451.hp1
HG02615.hp1
HG03195.hp1
 intron_variant MODIFIER c.1428-180T>C
c.1428-180T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305377
chrX:305432 C
C
 T
T
 64 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(61): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0013c0016t0002g0009
a0020c0025t0002g0051
a0022c0033t0002g0140
a0025c0020t0002g0026
a0027c0040t0002g0148
a0028c0017t0002g0010
 68 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(65): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1428-235G>A
c.1428-235G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305432
chrX:305456 G
G
 A
A
 1 a0002c0036t0001g0071
a0002c0036t0001g0071
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1428-259C>T
c.1428-259C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305456
chrX:305469 A
A
 C
C
 81 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(78): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0072
a0001c0003t0002g0101
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0017c0028t0005g0078
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0025c0020t0002g0026
a0027c0040t0002g0148
a0028c0017t0002g0010
 86 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(83): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02055.hp1
HG02080.hp2
HG02129.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1428-272T>G
c.1428-272T>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305469
chrX:305470 T
T
 C
C
 81 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(78): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0072
a0001c0003t0002g0101
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0017c0028t0005g0078
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0025c0020t0002g0026
a0027c0040t0002g0148
a0028c0017t0002g0010
 86 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(83): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02055.hp1
HG02080.hp2
HG02129.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1428-273A>G
c.1428-273A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305470
chrX:305477 A
A
 G
G
 1 a0003c0004t0002g0096
a0003c0004t0002g0096
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1428-280T>C
c.1428-280T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305477
chrX:305523 G
G
 A
A
 3 a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
 3 HG03195.hp2
NA18522.hp1
NA18906.hp1
HG03195.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.1428-326C>T
c.1428-326C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305523
chrX:305528 A
A
 G
G
 3 a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
 3 HG03195.hp2
NA18522.hp1
NA18906.hp1
HG03195.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.1428-331T>C
c.1428-331T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305528
chrX:305532 A
A
 G
G
 67 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(64): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0025c0020t0002g0026
a0027c0040t0002g0148
a0028c0017t0002g0010
 71 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(68): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp2
NA18941.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1428-335T>C
c.1428-335T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305532
chrX:305535 ATGGTCTC
others(296): Show 
ATGGTCTCGATCTCCTGACTTCGTGATCCACCCGCCTCGGCCTCCCAAAG
TGCTGGGATGACAGGCATGAGCCACTGCGCCCGGCTTTTTATTTTTTATT
TTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCAGGCTGGGGTGCAGTGG
CACGATCTTGGCTCACTGCAACCTCGGCCTCCTGGGTTCCAGCAATTCTC
CGGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACTGCGCC
CGGCTAATTTTTTGTATTTTTATTAGAGACGGGGTTTCACCGTGTTAGCC
AGGC
 A
A
 10 a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
others(7): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 11 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(8): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1428-641_1428-339d
others(2): Show 
c.1428-641_1428-339del
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305535
chrX:305543 G
G
 C
C
 3 a0001c0003t0002g0084
a0001c0003t0002g0085
a0023c0035t0004g0147
a0001c0003t0002g0084
a0001c0003t0002g0085
a0023c0035t0004g0147
 3 HG02109.hp2
HG02451.hp1
HG03195.hp1
HG02109.hp2
HG02451.hp1
HG03195.hp1
 intron_variant MODIFIER c.1428-346C>G
c.1428-346C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305543
chrX:305594 G
G
 T
T
 1 a0024c0032t0001g0108
a0024c0032t0001g0108
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.1428-397C>A
c.1428-397C>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305594
chrX:305632 A
A
 ATT
ATT
 2 a0001c0003t0003g0145
a0002c0005t0004g0076
a0001c0003t0003g0145
a0002c0005t0004g0076
 2 HG02615.hp2
NA18906.hp2
HG02615.hp2
NA18906.hp2
 intron_variant MODIFIER c.1428-437_1428-436d
others(4): Show 
c.1428-437_1428-436dupAA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305632
chrX:305632 A
A
 ATTT
ATTT
 1 a0001c0003t0003g0028
a0001c0003t0003g0028
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1428-438_1428-436d
others(5): Show 
c.1428-438_1428-436dupAAA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305632
chrX:305632 AT
AT
 A
A
 74 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(71): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0010c0029t0005g0077
a0010c0031t0005g0104
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0017c0028t0005g0078
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 78 HG00408.hp2
HG00558.hp2
HG00639.hp2
others(75): Show 
HG00408.hp2
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02055.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18941.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1428-436delA
c.1428-436delA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305632
chrX:305636 T
T
 A
A
 1 a0001c0001t0002g0040
a0001c0001t0002g0040
 1 NA18993.hp1
NA18993.hp1
 intron_variant MODIFIER c.1428-439A>T
c.1428-439A>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305636
chrX:305688 G
G
 A
A
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1428-491C>T
c.1428-491C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305688
chrX:305691 C
C
 A
A
 3 a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
 3 HG03195.hp2
NA18522.hp1
NA18906.hp1
HG03195.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.1428-494G>T
c.1428-494G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305691
chrX:305750 G
G
 A
A
 1 a0027c0040t0002g0148
a0027c0040t0002g0148
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.1428-553C>T
c.1428-553C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305750
chrX:305773 C
C
 T
T
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1428-576G>A
c.1428-576G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305773
chrX:305786 G
G
 A
A
 1 a0001c0003t0002g0101
a0001c0003t0002g0101
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1428-589C>T
c.1428-589C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305786
chrX:305846 G
G
 C
C
 10 a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
others(7): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 11 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(8): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1428-649C>G
c.1428-649C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305846
chrX:305867 G
G
 A
A
 2 a0015c0022t0004g0103
a0021c0027t0004g0083
a0015c0022t0004g0103
a0021c0027t0004g0083
 2 HG02486.hp1
HG02615.hp1
HG02486.hp1
HG02615.hp1
 intron_variant MODIFIER c.1428-670C>T
c.1428-670C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305867
chrX:305930 C
C
 T
T
 3 a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0145
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0145
 3 HG02109.hp2
HG02451.hp1
HG02615.hp2
HG02109.hp2
HG02451.hp1
HG02615.hp2
 intron_variant MODIFIER c.1428-733G>A
c.1428-733G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 305930
chrX:306098 C
C
 T
T
 1 a0001c0003t0003g0145
a0001c0003t0003g0145
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1428-901G>A
c.1428-901G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306098
chrX:306104 G
G
 C
C
 1 a0001c0003t0002g0101
a0001c0003t0002g0101
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1428-907C>G
c.1428-907C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306104
chrX:306126 C
C
 T
T
 1 a0001c0001t0002g0037
a0001c0001t0002g0037
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.1428-929G>A
c.1428-929G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306126
chrX:306132 G
G
 C
C
 70 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(67): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 74 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(71): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1428-935C>G
c.1428-935C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306132
chrX:306179 A
A
 G
G
 14 a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0005t0004g0076
others(11): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0005t0004g0076
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
 15 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(12): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03942.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1428-982T>C
c.1428-982T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306179
chrX:306181 C
C
 T
T
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.1428-984G>A
c.1428-984G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306181
chrX:306221 C
C
 T
T
 4 a0001c0003t0003g0061
a0001c0003t0003g0112
a0004c0006t0003g0013
others(1): Show 
a0001c0003t0003g0061
a0001c0003t0003g0112
a0004c0006t0003g0013
a0004c0006t0003g0015
 4 HG00140.hp2
HG01346.hp2
HG03017.hp1
others(1): Show 
HG00140.hp2
HG01346.hp2
HG03017.hp1
NA20129.hp2
 intron_variant MODIFIER c.1428-1024G>A
c.1428-1024G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306221
chrX:306222 GCAGATTA
others(46): Show 
GCAGATTAGGCACCTGTTGTATGCAGTCAGAAATGTACATTTTGACTGTC
AGCA
 G
G
 4 a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
others(1): Show 
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
 4 HG00741.hp2
HG02109.hp2
HG02451.hp1
others(1): Show 
HG00741.hp2
HG02109.hp2
HG02451.hp1
HG02615.hp2
 intron_variant MODIFIER c.1428-1078_1428-102
others(57): Show 
c.1428-1078_1428-1026delTGCTGACAGTCAAAATGTACATTTCT
GACTGCATACAACAGGTGCCTAATCTG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306222
chrX:306275 A
A
 ACAGATTA
others(48): Show 
ACAGATTAGGCACCTGTTGTATGCACAGTCAGAAATGTACATTTTGACTG
TCAGTG
 3 a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
 3 HG03195.hp2
NA18522.hp1
NA18906.hp1
HG03195.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.1427+1030_1428-107
others(59): Show 
c.1427+1030_1428-1079dupCACTGACAGTCAAAATGTACATTTCT
GACTGTGCATACAACAGGTGCCTAATCTG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306275
chrX:306310 T
T
 C
C
 70 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(67): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 74 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(71): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1427+1050A>G
c.1427+1050A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306310
chrX:306312 T
T
 A
A
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1427+1048A>T
c.1427+1048A>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306312
chrX:306458 A
A
 G
G
 3 a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
 3 HG03195.hp2
NA18522.hp1
NA18906.hp1
HG03195.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.1427+902T>C
c.1427+902T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306458
chrX:306472 A
A
 ATT
ATT
 18 a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
others(15): Show 
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0005t0001g0079
a0002c0005t0004g0076
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
 19 HG00741.hp1
HG00741.hp2
HG02109.hp2
others(16): Show 
HG00741.hp1
HG00741.hp2
HG02109.hp2
HG02258.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03942.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1427+886_1427+887d
others(4): Show 
c.1427+886_1427+887dupAA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306472
chrX:306488 C
C
 G
G
 18 a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
others(15): Show 
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0005t0001g0079
a0002c0005t0004g0076
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
 19 HG00741.hp1
HG00741.hp2
HG02109.hp2
others(16): Show 
HG00741.hp1
HG00741.hp2
HG02109.hp2
HG02258.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03942.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1427+872G>C
c.1427+872G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306488
chrX:306489 A
A
 G
G
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1427+871T>C
c.1427+871T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306489
chrX:306516 G
G
 C
C
 3 a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
 3 HG03195.hp2
NA18522.hp1
NA18906.hp1
HG03195.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.1427+844C>G
c.1427+844C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306516
chrX:306527 T
T
 TTTGA
TTTGA
 17 a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
others(14): Show 
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0005t0001g0079
a0002c0005t0004g0076
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
 18 HG00741.hp1
HG00741.hp2
HG02109.hp2
others(15): Show 
HG00741.hp1
HG00741.hp2
HG02109.hp2
HG02258.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03942.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1427+832_1427+833i
others(6): Show 
c.1427+832_1427+833insTCAA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306527
chrX:306604 T
T
 A
A
 1 a0002c0002t0001g0132
a0002c0002t0001g0132
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1427+756A>T
c.1427+756A>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306604
chrX:306641 A
A
 G
G
 1 a0001c0003t0001g0005
a0001c0003t0001g0005
 2 HG01070.hp1
HG01071.hp2
HG01070.hp1
HG01071.hp2
 intron_variant MODIFIER c.1427+719T>C
c.1427+719T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306641
chrX:306694 G
G
 A
A
 17 a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
others(14): Show 
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0005t0001g0079
a0002c0005t0004g0076
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
 18 HG00741.hp1
HG00741.hp2
HG02109.hp2
others(15): Show 
HG00741.hp1
HG00741.hp2
HG02109.hp2
HG02258.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03942.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1427+666C>T
c.1427+666C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306694
chrX:306751 T
T
 C
C
 17 a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
others(14): Show 
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0005t0001g0079
a0002c0005t0004g0076
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
 18 HG00741.hp1
HG00741.hp2
HG02109.hp2
others(15): Show 
HG00741.hp1
HG00741.hp2
HG02109.hp2
HG02258.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03942.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1427+609A>G
c.1427+609A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306751
chrX:306822 A
A
 G
G
 17 a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
others(14): Show 
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0005t0001g0079
a0002c0005t0004g0076
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
 18 HG00741.hp1
HG00741.hp2
HG02109.hp2
others(15): Show 
HG00741.hp1
HG00741.hp2
HG02109.hp2
HG02258.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03942.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1427+538T>C
c.1427+538T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306822
chrX:306847 C
C
 CAGCACAG
others(154): Show 
CAGCACAGATTAGGCACCTGTTGTATGCACAGTCAGAAATGTACATTTTG
ACTGTCCGCACAGATTAGGCACCTGTTGTATGCAGTCAGAAATGTACATT
TTGACTGTCAAGCACAGATTAGGCAACTGTTGTATGCAGTCAGAAATGTA
TTTTTACTGTCA
 1 a0002c0005t0001g0079
a0002c0005t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1427+512_1427+513i
others(163): Show 
c.1427+512_1427+513insTGACAGTAAAAATACATTTCTGACTGCA
TACAACAGTTGCCTAATCTGTGCTTGACAGTCAAAATGTACATTTCTGAC
TGCATACAACAGGTGCCTAATCTGTGCGGACAGTCAAAATGTACATTTCT
GACTGTGCATACAACAGGTGCCTAATCTGTGCT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306847
chrX:306875 AGTCAGAA
others(44): Show 
AGTCAGAAATGTACATTTTGACTGTCAGCACAGATTAGGCACCTGTTGTA
TG
 A
A
 85 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(82): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0017c0028t0005g0078
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 90 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(87): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1427+434_1427+484d
others(53): Show 
c.1427+434_1427+484delCATACAACAGGTGCCTAATCTGTGCTGA
CAGTCAAAATGTACATTTCTGAC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306875
chrX:306875 AGTCAGAA
others(97): Show 
AGTCAGAAATGTACATTTTGACTGTCAGCACAGATTAGGCACCTGTTGTA
TGCAGTCAGAAATGTACATTTTGACTGTCAGCACAGATTAGGCACCTGTT
GTATG
 A
A
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1427+381_1427+484d
others(2): Show 
c.1427+381_1427+484del
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306875
chrX:306932 A
A
 G
G
 67 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(64): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0020c0025t0002g0051
a0022c0033t0002g0140
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 71 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(68): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1427+428T>C
c.1427+428T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306932
chrX:306947 G
G
 T
T
 1 a0001c0001t0002g0052
a0001c0001t0002g0052
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.1427+413C>A
c.1427+413C>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306947
chrX:306949 C
C
 G
G
 4 a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
others(1): Show 
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
 4 HG00741.hp2
HG02109.hp2
HG02451.hp1
others(1): Show 
HG00741.hp2
HG02109.hp2
HG02451.hp1
HG02615.hp2
 intron_variant MODIFIER c.1427+411G>C
c.1427+411G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306949
chrX:306952 T
T
 C
C
 69 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(66): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 73 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(70): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1427+408A>G
c.1427+408A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306952
chrX:306954 A
A
 C
C
 12 a0001c0003t0001g0072
a0002c0005t0004g0076
a0002c0036t0001g0071
others(9): Show 
a0001c0003t0001g0072
a0002c0005t0004g0076
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
 13 HG00741.hp1
HG02258.hp2
HG02970.hp2
others(10): Show 
HG00741.hp1
HG02258.hp2
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03942.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1427+406T>G
c.1427+406T>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306954
chrX:306959 A
A
 T
T
 1 a0001c0001t0002g0055
a0001c0001t0002g0055
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.1427+401T>A
c.1427+401T>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306959
chrX:306992 T
T
 C
C
 1 a0001c0001t0002g0067
a0001c0001t0002g0067
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.1427+368A>G
c.1427+368A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 306992
chrX:307077 C
C
 T
T
 16 a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
others(13): Show 
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0005t0004g0076
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
 17 HG00741.hp1
HG00741.hp2
HG02109.hp2
others(14): Show 
HG00741.hp1
HG00741.hp2
HG02109.hp2
HG02258.hp2
HG02451.hp1
HG02615.hp2
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03942.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1427+283G>A
c.1427+283G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 307077
chrX:307113 A
A
 G
G
 1 a0001c0001t0002g0058
a0001c0001t0002g0058
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.1427+247T>C
c.1427+247T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 307113
chrX:307131 GTTGTATG
others(49): Show 
GTTGTATGCACAGTCACAAATGTAGATTTTGACTCTCAAGCGCAGATTAG
GCACCTC
 G
G
 16 a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
others(13): Show 
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0005t0004g0076
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
 17 HG00741.hp1
HG00741.hp2
HG02109.hp2
others(14): Show 
HG00741.hp1
HG00741.hp2
HG02109.hp2
HG02258.hp2
HG02451.hp1
HG02615.hp2
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03942.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1427+173_1427+228d
others(58): Show 
c.1427+173_1427+228delGAGGTGCCTAATCTGCGCTTGAGAGTCA
AAATCTACATTTGTGACTGTGCATACAA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 307131
chrX:307172 G
G
 A
A
 1 a0002c0002t0001g0135
a0002c0002t0001g0135
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.1427+188C>T
c.1427+188C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 307172
chrX:307249 A
A
 G
G
 17 a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
others(14): Show 
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0005t0004g0076
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
a0023c0035t0004g0147
 18 HG00741.hp1
HG00741.hp2
HG02109.hp2
others(15): Show 
HG00741.hp1
HG00741.hp2
HG02109.hp2
HG02258.hp2
HG02451.hp1
HG02615.hp2
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03942.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1427+111T>C
c.1427+111T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 307249
chrX:307322 A
A
 G
G
 19 a0001c0001t0001g0045
a0001c0001t0002g0067
a0001c0003t0001g0072
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0002g0067
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0005t0001g0079
a0002c0005t0004g0076
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
 20 HG00408.hp2
HG00741.hp1
HG00741.hp2
others(17): Show 
HG00408.hp2
HG00741.hp1
HG00741.hp2
HG02109.hp2
HG02258.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03491.hp2
HG03942.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1427+38T>C
c.1427+38T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 9/9 chrX 307322
chrX:307556 G
G
 A
A
 1 a0002c0002t0001g0110
a0002c0002t0001g0110
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1275-44C>T
c.1275-44C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 8/9 chrX 307556
chrX:307595 CG
CG
 C
C
 1 a0010c0031t0005g0104
a0010c0031t0005g0104
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1275-84delC
c.1275-84delC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 8/9 chrX 307595
chrX:307652 G
G
 A
A
 10 a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
others(7): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 11 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(8): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1274+80C>T
c.1274+80C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 8/9 chrX 307652
chrX:307673 A
A
 AC
AC
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.1274+58dupG
c.1274+58dupG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 8/9 chrX 307673
chrX:307719 G
G
 C
C
 1 a0003c0004t0002g0096
a0003c0004t0002g0096
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1274+13C>G
c.1274+13C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 8/9 chrX 307719
chrX:307926 T
T
 C
C
 103 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0045
others(100): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0031
a0001c0003t0001g0049
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0001g0068
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0116
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0017c0028t0005g0078
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 108 HG00099.hp1
HG00408.hp1
HG00408.hp2
others(105): Show 
HG00099.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03654.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1126-46A>G
c.1126-46A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 307926
chrX:308049 C
C
 T
T
 16 a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
others(13): Show 
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0005t0001g0079
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
 17 HG00741.hp1
HG00741.hp2
HG02109.hp2
others(14): Show 
HG00741.hp1
HG00741.hp2
HG02109.hp2
HG02258.hp2
HG02451.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03942.hp2
NA18906.hp1
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1126-169G>A
c.1126-169G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308049
chrX:308062 G
G
 A
A
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1126-182C>T
c.1126-182C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308062
chrX:308071 C
C
 T
T
 2 a0001c0003t0002g0101
a0010c0029t0005g0077
a0001c0003t0002g0101
a0010c0029t0005g0077
 2 HG02055.hp1
NA18522.hp1
HG02055.hp1
NA18522.hp1
 intron_variant MODIFIER c.1126-191G>A
c.1126-191G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308071
chrX:308147 AT
AT
 A
A
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.1126-268delA
c.1126-268delA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308147
chrX:308182 G
G
 A
A
 16 a0001c0001t0001g0036
a0001c0003t0001g0031
a0001c0003t0001g0049
others(13): Show 
a0001c0001t0001g0036
a0001c0003t0001g0031
a0001c0003t0001g0049
a0002c0002t0001g0068
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0116
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0005t0004g0076
a0024c0032t0001g0108
 16 HG00099.hp1
HG00408.hp1
HG00558.hp1
others(13): Show 
HG00099.hp1
HG00408.hp1
HG00558.hp1
HG00642.hp1
HG01433.hp1
HG03654.hp2
HG03834.hp2
NA18906.hp2
NA18956.hp2
NA18961.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp2
NA18983.hp1
NA19081.hp1
NA19085.hp2
 intron_variant MODIFIER c.1126-302C>T
c.1126-302C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308182
chrX:308215 C
C
 A
A
 8 a0001c0001t0002g0044
a0001c0001t0002g0058
a0001c0001t0002g0062
others(5): Show 
a0001c0001t0002g0044
a0001c0001t0002g0058
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0028c0017t0002g0010
 8 HG02027.hp2
NA18973.hp2
NA18991.hp1
others(5): Show 
HG02027.hp2
NA18973.hp2
NA18991.hp1
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19078.hp1
NA19089.hp1
 intron_variant MODIFIER c.1126-335G>T
c.1126-335G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308215
chrX:308272 T
T
 C
C
 67 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(64): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0020c0025t0002g0051
a0022c0033t0002g0140
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 71 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(68): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1126-392A>G
c.1126-392A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308272
chrX:308281 CA
CA
 C
C
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.1126-402delT
c.1126-402delT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308281
chrX:308332 G
G
 GA
GA
 1 a0001c0003t0003g0028
a0001c0003t0003g0028
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1126-453dupT
c.1126-453dupT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308332
chrX:308332 GA
GA
 G
G
 11 a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0005t0004g0076
others(8): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0005t0004g0076
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 12 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(9): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03942.hp2
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1126-453delT
c.1126-453delT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308332
chrX:308467 GC
GC
 G
G
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.1126-588delG
c.1126-588delG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308467
chrX:308470 C
C
 A
A
 2 a0010c0031t0005g0104
a0017c0028t0005g0078
a0010c0031t0005g0104
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp1
HG03195.hp2
NA18906.hp1
 intron_variant MODIFIER c.1126-590G>T
c.1126-590G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308470
chrX:308505 G
G
 GC
GC
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.1126-626dupG
c.1126-626dupG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308505
chrX:308601 GC
GC
 G
G
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.1126-722delG
c.1126-722delG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308601
chrX:308607 G
G
 A
A
 10 a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
others(7): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 11 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(8): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1126-727C>T
c.1126-727C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308607
chrX:308726 GT
GT
 G
G
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.1126-847delA
c.1126-847delA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308726
chrX:308732 C
C
 CT
CT
 13 a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0003t0001g0031
others(10): Show 
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0116
a0002c0002t0001g0118
a0002c0002t0001g0120
a0002c0002t0001g0129
a0002c0034t0003g0073
a0004c0006t0001g0020
a0016c0021t0003g0082
 13 HG00558.hp1
HG01243.hp2
HG02647.hp2
others(10): Show 
HG00558.hp1
HG01243.hp2
HG02647.hp2
HG02970.hp1
NA18942.hp2
NA18949.hp1
NA18956.hp2
NA18977.hp2
NA18983.hp1
NA19002.hp2
NA19077.hp2
NA19081.hp1
NA19085.hp2
 intron_variant MODIFIER c.1126-853dupA
c.1126-853dupA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308732
chrX:308732 CT
CT
 C
C
 73 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(70): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0145
a0002c0002t0001g0115
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0007c0008t0001g0011
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0012c0013t0001g0134
a0013c0016t0002g0009
a0017c0028t0005g0078
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 77 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(74): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02615.hp1
HG02615.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18985.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1126-853delA
c.1126-853delA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308732
chrX:308732 CTT
CTT
 C
C
 10 a0001c0001t0002g0032
a0001c0003t0001g0072
a0002c0005t0001g0079
others(7): Show 
a0001c0001t0002g0032
a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 11 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(8): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03942.hp2
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA18984.hp1
NA19057.hp2
 intron_variant MODIFIER c.1126-854_1126-853d
others(4): Show 
c.1126-854_1126-853delAA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308732
chrX:308732 CTTTTTTT
others(1): Show 
CTTTTTTTT
 C
C
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1126-860_1126-853d
others(10): Show 
c.1126-860_1126-853delAAAAAAAA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308732
chrX:308758 CG
CG
 C
C
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.1126-879delC
c.1126-879delC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308758
chrX:308827 CG
CG
 C
C
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.1126-948delC
c.1126-948delC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308827
chrX:308865 AG
AG
 A
A
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1126-986delC
c.1126-986delC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308865
chrX:308870 G
G
 C
C
 10 a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
others(7): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 11 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(8): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1126-990C>G
c.1126-990C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308870
chrX:308970 C
C
 G
G
 31 a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0029
others(28): Show 
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0050
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0069
a0002c0002t0002g0125
a0002c0005t0002g0121
a0002c0005t0002g0130
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0025c0020t0002g0026
a0026c0018t0002g0018
 33 HG00423.hp1
HG00558.hp2
HG00735.hp1
others(30): Show 
HG00423.hp1
HG00558.hp2
HG00735.hp1
HG01169.hp1
HG01175.hp2
HG01943.hp1
HG02080.hp2
HG02129.hp2
HG02273.hp1
HG02273.hp2
HG03490.hp2
HG03831.hp1
HG04228.hp1
NA18941.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18984.hp1
NA18985.hp1
NA18992.hp1
NA18993.hp1
NA19002.hp1
NA19011.hp2
NA19064.hp2
NA19077.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA20805.hp1
 intron_variant MODIFIER c.1126-1090G>C
c.1126-1090G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308970
chrX:308976 C
C
 CA
CA
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.1126-1097dupT
c.1126-1097dupT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 308976
chrX:309008 A
A
 AG
AG
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.1126-1129dupC
c.1126-1129dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309008
chrX:309089 TC
TC
 T
T
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.1126-1210delG
c.1126-1210delG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309089
chrX:309139 TC
TC
 T
T
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.1126-1260delG
c.1126-1260delG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309139
chrX:309145 A
A
 AG
AG
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.1126-1266dupC
c.1126-1266dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309145
chrX:309180 AT
AT
 A
A
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.1126-1301delA
c.1126-1301delA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309180
chrX:309200 G
G
 A
A
 67 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(64): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0020c0025t0002g0051
a0022c0033t0002g0140
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 71 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(68): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1126-1320C>T
c.1126-1320C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309200
chrX:309205 GT
GT
 G
G
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.1126-1326delA
c.1126-1326delA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309205
chrX:309221 T
T
 TC
TC
 1 a0003c0004t0002g0099
a0003c0004t0002g0099
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.1126-1342dupG
c.1126-1342dupG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309221
chrX:309234 C
C
 A
A
 1 a0004c0007t0002g0012
a0004c0007t0002g0012
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1126-1354G>T
c.1126-1354G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309234
chrX:309262 T
T
 TG
TG
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.1126-1383dupC
c.1126-1383dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309262
chrX:309290 C
C
 G
G
 88 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(85): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 93 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(90): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01243.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1126-1410G>C
c.1126-1410G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309290
chrX:309325 G
G
 GC
GC
 1 a0015c0022t0004g0103
a0015c0022t0004g0103
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1126-1446dupG
c.1126-1446dupG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309325
chrX:309330 C
C
 CA
CA
 1 a0001c0003t0003g0028
a0001c0003t0003g0028
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1126-1451dupT
c.1126-1451dupT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309330
chrX:309416 G
G
 A
A
 3 a0002c0005t0004g0076
a0010c0031t0005g0104
a0017c0028t0005g0078
a0002c0005t0004g0076
a0010c0031t0005g0104
a0017c0028t0005g0078
 3 HG03195.hp2
NA18906.hp1
NA18906.hp2
HG03195.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1126-1536C>T
c.1126-1536C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309416
chrX:309446 A
A
 AT
AT
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.1126-1567_1126-156
others(5): Show 
c.1126-1567_1126-1566insA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309446
chrX:309452 C
C
 T
T
 1 a0014c0023t0001g0075
a0014c0023t0001g0075
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.1126-1572G>A
c.1126-1572G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309452
chrX:309463 C
C
 T
T
 1 a0018c0030t0003g0102
a0018c0030t0003g0102
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1126-1583G>A
c.1126-1583G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309463
chrX:309466 CAGAA
CAGAA
 C
C
 2 a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0084
a0001c0003t0002g0085
 2 HG02109.hp2
HG02451.hp1
HG02109.hp2
HG02451.hp1
 intron_variant MODIFIER c.1126-1590_1126-158
others(8): Show 
c.1126-1590_1126-1587delTTCT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309466
chrX:309471 AG
AG
 A
A
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.1126-1592delC
c.1126-1592delC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309471
chrX:309472 GAA
GAA
 G
G
 72 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
others(69): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0027c0040t0002g0148
a0028c0017t0002g0010
 76 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(73): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18941.hp2
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1126-1594_1126-159
others(6): Show 
c.1126-1594_1126-1593delTT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309472
chrX:309474 A
A
 G
G
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.1126-1594T>C
c.1126-1594T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309474
chrX:309592 A
A
 AG
AG
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.1126-1713dupC
c.1126-1713dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309592
chrX:309635 T
T
 C
C
 89 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(86): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 94 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(91): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01243.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1126-1755A>G
c.1126-1755A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309635
chrX:309655 GTGCGGCC
others(332): Show 
GTGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGG
CAGGAAGGACCCTCACCTAGAGCCTCCAGAAGGAACTGGATCCAACTGAA
GTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCAT
CTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGT
GATTAAGTGGAAGATCTGAAATGAGATCATCCTGGATTAGGGTGGACCCT
AAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACA
CAGAGAAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGA
 G
G
 1 a0010c0031t0005g0104
a0010c0031t0005g0104
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1125+1425_1125+176
others(4): Show 
c.1125+1425_1125+1763del
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309655
chrX:309658 C
C
 CT
CT
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.1125+1760_1125+176
others(5): Show 
c.1125+1760_1125+1761insA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309658
chrX:309713 A
A
 G
G
 10 a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
others(7): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 11 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(8): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1125+1706T>C
c.1125+1706T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309713
chrX:309719 A
A
 C
C
 87 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(84): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0017c0028t0005g0078
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 92 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(89): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+1700T>G
c.1125+1700T>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309719
chrX:309734 A
A
 AAGGAACT
others(1011): Show 
AAGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAG
ACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGG
AAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGAAATGAGATCA
TCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAG
ACAGAAGAGGAGACACAGACACAGAGAAGAAGGCCACAGACAGAGGCAGA
GACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAG
CTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAAGGAACTGGA
TCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATG
TATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCT
CTGCAGATGTGATTAAGTGGAAGATCTGGAGATGAGATCATCCTGGATTA
GGGTGGACCCTAAATCTAATGACAGGTGTCCTTCTAAGAGACAGAAGAGG
AGACACAGACACAGAGGAGGAGGCCACAGACAGAGGCAGAGACTGGAGTG
ATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGG
CAGGAAGGACCCTCCCCTAGAGCCTCCAGAAGGAACTGGATCCAACTGAA
GTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCAT
CTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGT
GATTAAGTGGAAGATCTGAAATGAGATCATCCTGGATTAGGGTGGACCCT
AAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACA
CAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGATGCGGCCTCA
AGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACC
CTCCCCTAGAGCCTCCAGG
 1 a0002c0002t0001g0074
a0002c0002t0001g0074
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.1125+1684_1125+168
others(1022): Show 
c.1125+1684_1125+1685insCCTGGAGGCTCTAGGGGAGGGTCCTT
CCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCC
GCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGT
GTCTCCTCTTCTGTCTCTTAGAAGGACAGTAGTCATTAGATTTAGGGTCC
ACCCTAATCCAGGATGATCTCATTTCAGATCTTCCACTTAATCACATCTG
CAGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCA
ATACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTT
GGATCCAGTTCCTTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCC
CAGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCA
GTCTCTGCCTCTGTCTGTGGCCTCCTCCTCTGTGTCTGTGTCTCCTCTTC
TGTCTCTTAGAAGGACACCTGTCATTAGATTTAGGGTCCACCCTAATCCA
GGATGATCTCATCTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCT
GTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGAC
AGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTT
CCTTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGG
GGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCT
CTGTCTGTGGCCTTCTTCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAG
AAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTC
ATTTCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATA
ATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGT
GGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309734
chrX:309735 A
A
 G
G
 2 a0001c0001t0002g0059
a0015c0022t0004g0103
a0001c0001t0002g0059
a0015c0022t0004g0103
 2 HG02486.hp1
HG03490.hp2
HG02486.hp1
HG03490.hp2
 intron_variant MODIFIER c.1125+1684T>C
c.1125+1684T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309735
chrX:309771 C
C
 CCCCCCAC
others(333): Show 
CCCCCCACAAAAGAACCTGTCCATGTATTGATCATCTGGAACCTGTGAAT
GGGACATTATTTGGAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGAT
CTGAAATGAGATCATCCTGGATTAGGGTGGACCCCTAAATCTAATGACAG
GTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAGGGAACTGGATCCAACTGAAGTGAAGTGAACCGTGG
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.1125+1647_1125+164
others(344): Show 
c.1125+1647_1125+1648insCCACGGTTCACTTCACTTCAGTTGGA
TCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAG
CTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTC
TCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGT
CTCTTAGAAGGACACCTGTCATTAGATTTAGGGGTCCACCCTAATCCAGG
ATGATCTCATTTCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTT
TCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGG
TTCTTTTGTGGGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309771
chrX:309771 C
C
 CCCCCCAC
others(331): Show 
CCCCCCACAAAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATG
GGACATTATTTGGAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATC
TGAAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGT
GTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCAC
AGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTG
GAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCC
AGAGGGAACTGGATCCAACTGAAGTGAAGTGAACCGTGG
 4 a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0059
others(1): Show 
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0059
a0002c0005t0002g0121
 4 HG00558.hp2
HG02273.hp1
HG03490.hp2
others(1): Show 
HG00558.hp2
HG02273.hp1
HG03490.hp2
NA19080.hp2
 intron_variant MODIFIER c.1125+1647_1125+164
others(342): Show 
c.1125+1647_1125+1648insCCACGGTTCACTTCACTTCAGTTGGA
TCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAG
CTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTC
TCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGT
CTCTTAGAAGGACACCTGTCATTAGATTTAGGGTCCACCCTAATCCAGGA
TGATCTCATTTCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTT
CCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGT
CTTTTGTGGGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309771
chrX:309871 T
T
 TG
TG
 1 a0001c0001t0002g0064
a0001c0001t0002g0064
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.1125+1547dupC
c.1125+1547dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309871
chrX:309871 T
T
 TGAAATGA
others(1011): Show 
TGAAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGT
GTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGAAGAAGGCCAC
AGACGGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTG
GAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCC
AGAGGGAACTGGATCCAACTGAAGTGAAGTGAACCGTGGCCCCCACAAAA
GACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTG
GAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGAAATGAGATC
ATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGA
GACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAG
AGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGA
GCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAAGGAACTGG
ATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCAT
GTATTGATCATCTGGAATCTGTGAATGGGACATTATTTGGAAACAGGGTC
TCTGCAGATGTGATTAACTGGAAGATCTGGAGATGAGATCATCCTGGATT
AGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCTAAGAGACAGAAGAG
GAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGT
GATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAG
GCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGA
AGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCA
TCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATG
TGATTAAGTGGAAGATCTG
 1 a0004c0007t0002g0012
a0004c0007t0002g0012
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1125+1547_1125+154
others(1022): Show 
c.1125+1547_1125+1548insCAGATCTTCCACTTAATCACATCTGC
AGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAA
TACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTG
GATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCC
AGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAG
TCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCT
GTCTCTTAGAAGGACACCTGTCATTAGATTTAGGGTCCACCCTAATCCAG
GATGATCTCATCTCCAGATCTTCCAGTTAATCACATCTGCAGAGACCCTG
TTTCCAAATAATGTCCCATTCACAGATTCCAGATGATCAATACATGGACA
GGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTC
CTTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGG
GGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTC
TGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGA
AGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCA
TTTCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAA
TGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTG
GGGGCCACGGTTCACTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCT
CTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGT
CCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCCGTCTGTGGCCT
TCTTCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTGTC
ATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATTTC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309871
chrX:309871 T
T
 TGAAATGA
others(1010): Show 
TGAAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGT
GTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCAC
AGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTG
GAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCC
AGAGGGAACTGGATCCAACTGAAGTGAAGTGAACCGTGGCCCCCACAAAA
GACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTG
GAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGAAATGAGATC
ATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGA
GACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAG
AGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCAGGAG
CTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAAGGAACTGGA
TCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATG
TATTGATCATCTGGAATCTGTGAATGGGACATTATTTGGAAACAGGGTCT
CTGCAGATGTGATTAACTGGAAGATCTGGAGATGAGATCATCCTGGATTA
GGGTGGACCCTAAATCTAATGACAGGTGTCCTTCTAAGAGACAGAAGAGG
AGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTG
ATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGG
CAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAA
GTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCAT
CTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGT
GATTAAGTGGAAGATCTG
 1 a0001c0001t0002g0050
a0001c0001t0002g0050
 1 NA18953.hp1
NA18953.hp1
 intron_variant MODIFIER c.1125+1547_1125+154
others(1021): Show 
c.1125+1547_1125+1548insCAGATCTTCCACTTAATCACATCTGC
AGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAA
TACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTG
GATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCC
AGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAG
TCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCT
GTCTCTTAGAAGGACACCTGTCATTAGATTTAGGGTCCACCCTAATCCAG
GATGATCTCATCTCCAGATCTTCCAGTTAATCACATCTGCAGAGACCCTG
TTTCCAAATAATGTCCCATTCACAGATTCCAGATGATCAATACATGGACA
GGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTC
CTTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGG
GCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCT
GTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAA
GGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCAT
TTCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAAT
GTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGG
GGGCCACGGTTCACTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTC
TAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTC
CCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTT
CTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTGTCA
TTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATTTC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309871
chrX:309871 T
T
 TGAAATGA
others(1350): Show 
TGAAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGT
GTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCAC
AGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTG
GAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCC
AGAGGGAACTGGATCCAACTGAAGTGAAGTGAACCGTGGCCCCCACAAAA
GACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTG
GAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGAAATGAGATC
ATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGA
GACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAG
AGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGA
GCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAAGGAACTGG
ATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCAT
GTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTC
TCTGCAGATGTGATTAAGTGGAAGATCTGAAATGAGATCATCCTGGATTA
GGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGG
AGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTG
ATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGG
CAGGAAGGACCCTCCCCTAGAGCCTCCAGAAGGAACTGGATCCAACTGAA
GTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCAT
CTGGAATCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGT
GATTAACTGGAAGATCTGGAGATGAGATCATCCTGGATTAGGGTGGACCC
TAAATCTAATGACAGGTGTCCTTCTAAGAGACAGAAGAGGAGACACAGAC
ACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGATGCGGCCTC
AAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGAC
CCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAAGTGAACTGAA
CTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCATCTGGAACCTG
TGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGTGATTAAGTGG
AAGATCTG
 1 a0001c0001t0002g0034
a0001c0001t0002g0034
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.1125+1547_1125+154
others(1361): Show 
c.1125+1547_1125+1548insCAGATCTTCCACTTAATCACATCTGC
AGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAA
TACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTG
GATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCC
AGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAG
TCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCT
GTCTCTTAGAAGGACACCTGTCATTAGATTTAGGGTCCACCCTAATCCAG
GATGATCTCATCTCCAGATCTTCCAGTTAATCACATCTGCAGAGACCCTG
TTTCCAAATAATGTCCCATTCACAGATTCCAGATGATCAATACATGGACA
GGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTC
CTTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGG
GGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTC
TGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGA
AGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCA
TTTCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAA
TGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTG
GGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCTTCTGGAGGC
TCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCG
TCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCC
TTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACAGTAGT
CATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATTTCAGATCTT
CCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATTCA
CAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGGGCCACGGT
TCACTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGG
TCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTG
TGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTG
TCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTGTCATTAGATTTAG
GGTCCACCCTAATCCAGGATGATCTCATTTC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309871
chrX:309871 T
T
 TGAAATGA
others(1011): Show 
TGAAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGT
GTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCAC
AGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTG
GAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCC
AGAGGGAACTGGATCCAACTGAAGTGAAGTGAACCGTGGCCCCCACAAAA
GACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTG
GAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGAAATGAGATC
ATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGA
GACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAG
AGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGA
GCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAAGGAACTGG
ATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCAT
GTATTGATCATCTGGAATCTGTGAATGGGACATTATTTGGAAACAGGGTC
TCTGCAGATGTGATTAACTGGAAGATCTGGAGATGAGATCATCCTGGATT
AGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCTAAGAGACAGAAGAG
GAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGT
GATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAG
GCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGA
AGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCA
TCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATG
TGATTAAGTGGAAGATCTG
 23 a0001c0001t0001g0039
a0001c0001t0002g0003
a0001c0001t0002g0029
others(20): Show 
a0001c0001t0001g0039
a0001c0001t0002g0003
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0052
a0001c0001t0002g0057
a0001c0001t0002g0069
a0002c0002t0002g0125
a0002c0005t0002g0130
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0020c0025t0002g0051
a0025c0020t0002g0026
 24 HG00423.hp1
HG01074.hp2
HG01169.hp1
others(21): Show 
HG00423.hp1
HG01074.hp2
HG01169.hp1
HG02080.hp2
HG02129.hp2
HG03831.hp1
HG03834.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18956.hp1
NA18957.hp1
NA18984.hp1
NA18985.hp1
NA18992.hp1
NA18993.hp1
NA19002.hp1
NA19011.hp2
NA19064.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+1547_1125+154
others(1022): Show 
c.1125+1547_1125+1548insCAGATCTTCCACTTAATCACATCTGC
AGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAA
TACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTG
GATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCC
AGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAG
TCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCT
GTCTCTTAGAAGGACACCTGTCATTAGATTTAGGGTCCACCCTAATCCAG
GATGATCTCATCTCCAGATCTTCCAGTTAATCACATCTGCAGAGACCCTG
TTTCCAAATAATGTCCCATTCACAGATTCCAGATGATCAATACATGGACA
GGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTC
CTTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGG
GGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTC
TGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGA
AGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCA
TTTCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAA
TGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTG
GGGGCCACGGTTCACTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCT
CTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGT
CCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCT
TCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTGTC
ATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATTTC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309871
chrX:309871 T
T
 TGAAATGA
others(3391): Show 
TGAAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGT
GTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCAC
AGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTG
GAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCC
AGAGGGAACTGGATCCAACTGAAGTGAAGTGAACCGTGGCCCCCACAAAA
GACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTG
GAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGAAATGAGATC
ATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGA
GACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAG
AGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGA
GCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAAGGAACTGG
ATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCAT
GTATTGATCATCTGGAATCTGTGAATGGGACATTATTTGGAAACAGGGTC
TCTGCAGATGTGATTAACTGGAAGATCTGGAGATGAGATCATCCTGGATT
AGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCTAAGAGACAGAAGAG
GAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGT
GATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAG
GCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGA
AGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCA
TCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATG
TGATTAAGTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTGGACC
CTAAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGGAGACACAGA
CACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGATGCGGCCA
CAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGA
CCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAAGTGAACTGA
ACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCATCTGGAACCT
GTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGTGATTAACTG
GAAGATCTGGAGATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAA
TGACAGGTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAG
AAGGCCACAGACAGAGGCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGG
GACGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTA
GAGCCTCCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCC
CCCACAAAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGA
CATTATTTGGAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGG
AAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGT
CCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAG
ACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGA
GCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAG
AGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAG
ACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGG
AAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATC
ATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGA
GACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAG
AGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGA
GCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGG
ATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCAT
GTATTGATCATCTGGAATCTGTGAATGGGACATTATTTGGAAACAGGGTC
TCTGCAGATGTGATTAACTGGAAGATCTGGAGATGAGATCATCCTGGATT
AGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCTAAGAGACAGAAGAG
GAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGT
GATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAG
GCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGA
AGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCA
TCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATG
TGATTAAGTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTGGACC
CTAAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGGAGACACAGA
CACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGATGCGGCCA
CAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGA
CCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAAGTGAACTGA
ACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCATCTGGAATCT
GTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGTGATTAACTG
GAAGATCTGGAGATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAA
TGACAGGTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAG
AAGGCCACAGACAGAGGCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGG
GACGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTA
GAGCCTCCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCC
CCCACAAAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGA
CATTATTTGGAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTG
 1 a0001c0001t0002g0004
a0001c0001t0002g0004
 2 HG01943.hp1
HG02273.hp2
HG01943.hp1
HG02273.hp2
 intron_variant MODIFIER c.1125+1547_1125+154
others(3402): Show 
c.1125+1547_1125+1548insCAGATCTTCCACTTAATCACATCTGC
AGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAA
TACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTG
GATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCC
AGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAG
TCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCT
GTCTCTTAGAAGGACACCTGTCATTAGATTTAGGGTCCACCCTAATCCAG
GATGATCTCATCTCCAGATCTTCCAGTTAATCACATCTGCAGAGACCCTG
TTTCCAAATAATGTCCCATTCACAGATTCCAGATGATCAATACATGGACA
GGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTC
CCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGG
GGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTC
TGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGA
AGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCA
TTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATA
ATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGT
GGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGG
CTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGC
GTCCCTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGC
CTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTG
TCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATCTCCAGATC
TTCCAGTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATT
CACAGATTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGGGGCCAC
AGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGGA
GGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGC
TTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCT
GTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACAGTAGTCATTAGATT
TAGGGTCCACCCTAATCCAGGATGATCTCATTTCCAGATCTTCCACTTAA
TCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCC
AGATGATCAATACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTC
ACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCC
TGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGC
ATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGT
CTCCTCTTCTGTCTCTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCAC
CCTAATCCAGGATGATCTCATTTCCAGATCTTCCACTTAATCACATCTGC
AGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAA
TACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTG
GATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCC
AGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAG
TCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCT
GTCTCTTAGAAGGACACCTGTCATTAGATTTAGGGTCCACCCTAATCCAG
GATGATCTCATCTCCAGATCTTCCAGTTAATCACATCTGCAGAGACCCTG
TTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACA
GGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTC
CCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGG
GGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTC
TGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGA
AGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCA
TTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATA
ATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGT
GGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGG
CTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGC
GTCCCTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGC
CTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTG
TCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATCTCCAGATC
TTCCAGTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATT
CACAGATTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGGGGCCAC
AGTTCAGTTCACTTCAGTTGGATCCAGTTCCTTCTGGAGGCTCTAGGGGA
GGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGC
TTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCT
GTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACAGTAGTCATTAGATT
TAGGGTCCACCCTAATCCAGGATGATCTCATTTCAGATCTTCCACTTAAT
CACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCA
GATGATCAATACATGGACAGGTCTTTTGTGGGGGCCACGGTTCACTTCAC
TTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTG
CCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCAT
CACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCT
CCTCTTCTGTCTCTTAGAAGGACACCTGTCATTAGATTTAGGGTCCACCC
TAATCCAGGATGATCTCATTTC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309871
chrX:309871 T
T
 TGAAATGA
others(671): Show 
TGAAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGT
GTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCAC
AGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTG
GAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCC
AGAGGGAACTGGATCCAACTGAAGTGAAGTGAACCGTGGCCCCCACAAAA
GACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTG
GAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGAAATGAGATC
ATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGA
GACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAG
AGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCCAGGA
GCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGG
ATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCAT
GTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTC
TCTGCAGATGTGATTAAGTGGAAGATCTG
 1 a0001c0001t0002g0047
a0001c0001t0002g0047
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.1125+1547_1125+154
others(682): Show 
c.1125+1547_1125+1548insCAGATCTTCCACTTAATCACATCTGC
AGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAA
TACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTG
GATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCC
AGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAG
TCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCT
GTCTCTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAG
GATGATCTCATTTCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGT
TTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAG
GTCTTTTGTGGGGGCCACGGTTCACTTCACTTCAGTTGGATCCAGTTCCC
TCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGG
CTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTG
TCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAG
GACACCTGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATT
TC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309871
chrX:309871 T
T
 TGAAATGA
others(1011): Show 
TGAAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGT
GTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCAC
AGACAGAGGCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTG
GAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCC
AGAGGGAACTGGATCCAACTGAAGTGAAGTGAACCGTGGCCCCCACAAAA
GACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTG
GAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGAAATGAGATC
ATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGA
GACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAG
AGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGA
GCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAAGGAACTGG
ATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCAT
GTATTGATCATCTGGAATCTGTGAATGGGACATTATTTGGAAACAGGGTC
TCTGCAGATGTGATTAACTGGAAGATCTGGAGATGAGATCATCCTGGATT
AGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCTAAGAGACAGAAGAG
GAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGT
GATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAG
GCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGA
AGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCA
TCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATG
TGATTAAGTGGAAGATCTG
 1 a0004c0007t0002g0014
a0004c0007t0002g0014
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1125+1547_1125+154
others(1022): Show 
c.1125+1547_1125+1548insCAGATCTTCCACTTAATCACATCTGC
AGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAA
TACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTG
GATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCC
AGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAG
TCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCT
GTCTCTTAGAAGGACACCTGTCATTAGATTTAGGGTCCACCCTAATCCAG
GATGATCTCATCTCCAGATCTTCCAGTTAATCACATCTGCAGAGACCCTG
TTTCCAAATAATGTCCCATTCACAGATTCCAGATGATCAATACATGGACA
GGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTC
CTTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGG
GGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTC
TGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGA
AGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCA
TTTCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAA
TGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTG
GGGGCCACGGTTCACTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCT
CTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGT
CCCTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCT
TCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTGTC
ATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATTTC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309871
chrX:309871 T
T
 TGAAATGA
others(1012): Show 
TGAAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACT
GTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCAC
AGACAGAGGCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTG
GAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCC
AGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAA
AGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTT
GGAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGAAATGAGAT
CATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAG
AGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCA
GAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGG
AGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTG
GATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCA
TGTATTGATCATCTGGAATCTGTGAATGGGACATTATTTGGAAACAGGGT
CTCTGCAGATGTGATTAACTGGAAGATCTGGAGATGAGATCATCCTGGAT
TAGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCTAAGAGACAGAAGA
GGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAG
TGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGA
GGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTG
AAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATC
ATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGAT
GTGATTAAGTGGAAGATCTG
 1 a0027c0040t0002g0148
a0027c0040t0002g0148
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.1125+1547_1125+154
others(1023): Show 
c.1125+1547_1125+1548insCAGATCTTCCACTTAATCACATCTGC
AGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAA
TACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTG
GATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCC
AGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAG
TCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCT
GTCTCTTAGAAGGACACCTGTCATTAGATTTAGGGTCCACCCTAATCCAG
GATGATCTCATCTCCAGATCTTCCAGTTAATCACATCTGCAGAGACCCTG
TTTCCAAATAATGTCCCATTCACAGATTCCAGATGATCAATACATGGACA
GGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTC
CCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGG
GGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTC
TGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGA
AGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCA
TTTCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAA
TGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTG
GGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGC
TCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCG
TCCCTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCC
TTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACAGTAGT
CATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATTTC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309871
chrX:309871 T
T
 TGGAGATG
others(674): Show 
TGGAGATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGG
TGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCA
CAGACAGAGGCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCT
GGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTC
CAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAA
AAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATT
TGGAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAAATGAG
ATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTA
AGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGG
CAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCA
GGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAAC
TGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTC
CATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGG
GTCTCTGCAGATGTGATTAACTGGAAGATCTG
 1 a0001c0003t0003g0028
a0001c0003t0003g0028
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1125+1547_1125+154
others(685): Show 
c.1125+1547_1125+1548insCAGATCTTCCAGTTAATCACATCTGC
AGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAA
TACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTG
GATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCC
AGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAG
TCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCT
GTCTCTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAG
GATGATCTCATTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTG
TTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACA
GGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTC
CCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGG
GGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTC
TGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGA
AGGACACCTGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCA
TCTCC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309871
chrX:309917 T
T
 A
A
 3 a0001c0001t0002g0054
a0003c0004t0002g0087
a0003c0004t0002g0100
a0001c0001t0002g0054
a0003c0004t0002g0087
a0003c0004t0002g0100
 3 HG04228.hp1
NA18993.hp2
NA19064.hp1
HG04228.hp1
NA18993.hp2
NA19064.hp1
 intron_variant MODIFIER c.1125+1502A>T
c.1125+1502A>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309917
chrX:309918 A
A
 G
G
 3 a0001c0001t0002g0054
a0003c0004t0002g0087
a0003c0004t0002g0100
a0001c0001t0002g0054
a0003c0004t0002g0087
a0003c0004t0002g0100
 3 HG04228.hp1
NA18993.hp2
NA19064.hp1
HG04228.hp1
NA18993.hp2
NA19064.hp1
 intron_variant MODIFIER c.1125+1501T>C
c.1125+1501T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309918
chrX:309919 C
C
 G
G
 3 a0001c0001t0002g0054
a0003c0004t0002g0087
a0003c0004t0002g0100
a0001c0001t0002g0054
a0003c0004t0002g0087
a0003c0004t0002g0100
 3 HG04228.hp1
NA18993.hp2
NA19064.hp1
HG04228.hp1
NA18993.hp2
NA19064.hp1
 intron_variant MODIFIER c.1125+1500G>C
c.1125+1500G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309919
chrX:309960 A
A
 G
G
 87 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(84): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0017c0028t0005g0078
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 92 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(89): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+1459T>C
c.1125+1459T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 309960
chrX:310074 A
A
 G
G
 33 a0001c0001t0001g0039
a0001c0001t0002g0003
a0001c0001t0002g0004
others(30): Show 
a0001c0001t0001g0039
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0057
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0002c0002t0002g0125
a0002c0005t0002g0130
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0020c0025t0002g0051
a0025c0020t0002g0026
a0027c0040t0002g0148
 35 HG00423.hp1
HG00733.hp1
HG00735.hp1
others(32): Show 
HG00423.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01074.hp2
HG01169.hp1
HG01175.hp2
HG01361.hp2
HG01943.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02273.hp2
HG02451.hp1
HG03831.hp1
HG03834.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18984.hp1
NA18985.hp1
NA18992.hp1
NA18993.hp1
NA19002.hp1
NA19011.hp2
NA19064.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+1345T>C
c.1125+1345T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310074
chrX:310150 C
C
 T
T
 37 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0027
others(34): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0027
a0001c0001t0002g0044
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0002c0005t0002g0006
a0002c0005t0002g0123
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0013c0016t0002g0009
a0022c0033t0002g0140
a0026c0018t0002g0018
a0028c0017t0002g0010
 39 HG00408.hp2
HG00558.hp2
HG00639.hp2
others(36): Show 
HG00408.hp2
HG00558.hp2
HG00639.hp2
HG01070.hp2
HG01109.hp2
HG01167.hp1
HG01361.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02155.hp2
HG02300.hp1
HG03490.hp2
HG03491.hp2
HG04115.hp2
HG04228.hp1
NA18973.hp1
NA18973.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19011.hp1
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp2
NA19089.hp1
 intron_variant MODIFIER c.1125+1269G>A
c.1125+1269G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310150
chrX:310200 G
G
 C
C
 69 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(66): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0003g0028
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0020c0025t0002g0051
a0022c0033t0002g0140
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 73 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(70): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+1219C>G
c.1125+1219C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310200
chrX:310210 TG
TG
 T
T
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+1208delC
c.1125+1208delC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310210
chrX:310214 G
G
 A
A
 6 a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
others(3): Show 
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0002c0005t0004g0076
a0015c0022t0004g0103
a0021c0027t0004g0083
 6 HG00741.hp2
HG02109.hp2
HG02451.hp1
others(3): Show 
HG00741.hp2
HG02109.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp1
NA18906.hp2
 intron_variant MODIFIER c.1125+1205C>T
c.1125+1205C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310214
chrX:310243 C
C
 A
A
 1 a0001c0003t0003g0028
a0001c0003t0003g0028
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1125+1176G>T
c.1125+1176G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310243
chrX:310243 C
C
 CTAAATCT
others(1353): Show 
CTAAATCTAATGACAGGTGTCCTTCTAAGAGACAGAAGAGGAGACACAGA
CACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGATGCGGCCT
CAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGA
CCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAAGTGAACTGA
ACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCATCTGGAACCT
GTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGTGATTAAGTG
GAAGATCTGGAAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAA
TGACTACTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAG
AAGGCCACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGG
GACGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTA
GAGCCTCCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCC
CCCACAAAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGA
CATTATTTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGG
AAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGT
CCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAG
ACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGA
GCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAG
AGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAG
ACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGG
AAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAAATGAGATC
ATCCTGGATTAGGGTGGACCATAAATCTAATGACAGGTGTCCTTCTAAGA
GACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAG
AGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGA
GCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGG
ATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCAT
GTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTC
TCTGCAGATGTGATTAACTGGAAGATCTGGAAATGAGATCATCCTGGATT
AGGGTGGACCA
 1 a0001c0003t0003g0145
a0001c0003t0003g0145
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1125+1175_1125+117
others(1364): Show 
c.1125+1175_1125+1176insTGGTCCACCCTAATCCAGGATGATCT
CATTTCCAGATCTTCCAGTTAATCACATCTGCAGAGACCCTGTTTCCAAA
TAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTT
GTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGA
GGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAG
GCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTG
GCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACC
TGTCATTAGATTTATGGTCCACCCTAATCCAGGATGATCTCATTTCCAGA
TCTTCCAGTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCA
TTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGGGGCC
ACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGG
GAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGG
GCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCT
CTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACAGTAGTCATTAGA
TTTAGGGTCCACCCTAATCCAGGATGATCTCATTTCCAGATCTTCCAGTT
AATCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTT
CCAGATGATCAATACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGT
TCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTT
CCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCC
GCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGT
GTCTCCTCTTCTGTCTCTTAGAAGGACAGTAGTCATTAGATTTAGGGTCC
ACCCTAATCCAGGATGATCTCATTTCCAGATCTTCCACTTAATCACATCT
GCAGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATC
AATACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGT
TGGATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTC
CCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCC
AGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTT
CTGTCTCTTAGAAGGACACCTGTCATTAGATTTA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310243
chrX:310257 A
A
 T
T
 3 a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0005t0004g0076
a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0005t0004g0076
 3 HG02109.hp2
HG02451.hp1
NA18906.hp2
HG02109.hp2
HG02451.hp1
NA18906.hp2
 intron_variant MODIFIER c.1125+1162T>A
c.1125+1162T>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310257
chrX:310258 G
G
 A
A
 3 a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0005t0004g0076
a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0005t0004g0076
 3 HG02109.hp2
HG02451.hp1
NA18906.hp2
HG02109.hp2
HG02451.hp1
NA18906.hp2
 intron_variant MODIFIER c.1125+1161C>T
c.1125+1161C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310258
chrX:310259 G
G
 C
C
 3 a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0005t0004g0076
a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0005t0004g0076
 3 HG02109.hp2
HG02451.hp1
NA18906.hp2
HG02109.hp2
HG02451.hp1
NA18906.hp2
 intron_variant MODIFIER c.1125+1160C>G
c.1125+1160C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310259
chrX:310259 GTGTCCTT
others(332): Show 
GTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGGAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAAGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA
AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT
TTGGAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGAAATGAG
ATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACTAC
 G
G
 11 a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
others(8): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0017c0028t0005g0078
a0019c0026t0001g0048
 12 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(9): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1125+821_1125+1159
others(3): Show 
c.1125+821_1125+1159del
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310259
chrX:310303 G
G
 A
A
 77 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(74): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 81 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(78): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+1116C>T
c.1125+1116C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310303
chrX:310342 A
A
 T
T
 70 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(67): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 74 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(71): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+1077T>A
c.1125+1077T>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310342
chrX:310414 A
A
 G
G
 73 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(70): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 77 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(74): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+1005T>C
c.1125+1005T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310414
chrX:310481 C
C
 A
A
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+938G>T
c.1125+938G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310481
chrX:310493 G
G
 A
A
 1 a0003c0038t0001g0097
a0003c0038t0001g0097
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.1125+926C>T
c.1125+926C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310493
chrX:310550 T
T
 TG
TG
 75 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(72): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 79 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(76): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+868dupC
c.1125+868dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310550
chrX:310553 A
A
 G
G
 2 a0002c0005t0004g0076
a0010c0031t0005g0104
a0002c0005t0004g0076
a0010c0031t0005g0104
 2 NA18906.hp1
NA18906.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1125+866T>C
c.1125+866T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310553
chrX:310596 T
T
 A
A
 6 a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0002t0001g0114
others(3): Show 
a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0002t0001g0114
a0002c0005t0004g0076
a0005c0019t0001g0022
a0010c0031t0005g0104
 6 HG01123.hp2
HG02109.hp2
HG02451.hp1
others(3): Show 
HG01123.hp2
HG02109.hp2
HG02451.hp1
HG02735.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1125+823A>T
c.1125+823A>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310596
chrX:310597 A
A
 G
G
 6 a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0002t0001g0114
others(3): Show 
a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0002t0001g0114
a0002c0005t0004g0076
a0005c0019t0001g0022
a0010c0031t0005g0104
 6 HG01123.hp2
HG02109.hp2
HG02451.hp1
others(3): Show 
HG01123.hp2
HG02109.hp2
HG02451.hp1
HG02735.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1125+822T>C
c.1125+822T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310597
chrX:310598 C
C
 CTGTCCTT
others(333): Show 
CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA
AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT
TTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAAATGA
GATCATCCTGGATTAGGGTGGACCATAAATCTAATGACAGG
 1 a0004c0007t0002g0025
a0004c0007t0002g0025
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.1125+820_1125+821i
others(342): Show 
c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA
ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG
ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA
TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC
CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT
CCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTC
TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT
CTTAGAAGGACA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310598
chrX:310598 C
C
 CTGTCCTT
others(673): Show 
CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA
AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT
TTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAAATGA
GATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCT
AAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAG
GCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCC
AGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAA
CTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGT
CCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAG
GGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAAATGAGATCATCCTG
GATTAGGGTGGACCATAAATCTAATGACAGG
 2 a0015c0022t0004g0103
a0021c0027t0004g0083
a0015c0022t0004g0103
a0021c0027t0004g0083
 2 HG02486.hp1
HG02615.hp1
HG02486.hp1
HG02615.hp1
 intron_variant MODIFIER c.1125+820_1125+821i
others(682): Show 
c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA
ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG
ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA
TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC
CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT
CCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAGTCTC
TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT
CTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG
ATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAGACCCTGTTTC
CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC
TTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTC
TGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCT
CCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTC
TGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGA
CA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310598
chrX:310598 C
C
 CTGTCCTT
others(1013): Show 
CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA
AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT
TTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAGATGA
GATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCT
AAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAG
GCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCC
AGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAA
CTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGT
CCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAG
GGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTG
GATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGA
AGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTG
GAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGG
AGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAA
CTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTG
ATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCA
GATGTGATTAACTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTG
GACCATAAATCTAATGACAGG
 4 a0001c0001t0002g0027
a0003c0004t0002g0087
a0003c0004t0002g0088
others(1): Show 
a0001c0001t0002g0027
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0100
 4 HG02155.hp2
NA18993.hp2
NA19055.hp2
others(1): Show 
HG02155.hp2
NA18993.hp2
NA19055.hp2
NA19064.hp1
 intron_variant MODIFIER c.1125+820_1125+821i
others(1022): Show 
c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA
ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG
ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA
TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC
CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT
CCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTC
TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT
CTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG
ATCTCATTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTC
CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC
TTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTC
TGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCT
CCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTC
TGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGA
CACCTGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATCTC
CAGATCTTCCAGTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGT
CCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGG
GGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCT
AGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCC
CTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTC
TCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310598
chrX:310598 C
C
 CTGTCCTT
others(1353): Show 
CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA
AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT
TTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAGATGA
GATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCT
AAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAG
GCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCC
AGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAA
CTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGT
CCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAG
GGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTG
GATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGA
AGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTG
GAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGG
AGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAA
CTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTG
ATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCA
GATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTG
GACCCTAAATCTAATGACAGGTGTCCTTCTAAGAGACAGAAGAGGAGACA
CAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGATGCG
GCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGGA
AGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAAGTGAA
CTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCATCTGGA
ACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGTGATTA
ACTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTGGACCATAAAT
CTAATGACAGG
 1 a0002c0005t0002g0123
a0002c0005t0002g0123
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.1125+820_1125+821i
others(1362): Show 
c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA
ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG
ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA
TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC
CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT
CCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTC
TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT
CTTAGAAGGACACCTGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG
ATCTCATTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTC
CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC
TTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTC
TGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCT
CCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTC
TGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGA
CAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATTTC
CAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGT
CCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGG
GGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCT
AGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCC
CTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTC
TCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTGTCAT
TAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATCTCCAGATCTTCC
AGTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATTCACA
GGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGGGGCCACAGTT
CAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGT
CCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGT
GGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGT
CTGTGTCTCCTCTTCTGTCTCTTAGAAGGACA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310598
chrX:310598 C
C
 CTGTCCTT
others(1353): Show 
CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA
AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT
TTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAGATGA
GATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCT
AAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAG
GCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCC
AGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAA
CTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGT
CCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAG
GGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTG
GATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGA
AGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTG
GAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGG
AGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAA
CTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTG
ATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCA
GATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTG
GACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGGAGACA
CAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGATGCG
GCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGGA
AGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAAGTGAA
CTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCATCTGGA
ACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGTGATTA
ACTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTGGACCATAAAT
CTAATGACAGG
 13 a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0044
others(10): Show 
a0001c0001t0001g0002
a0001c0001t0001g0045
a0001c0001t0002g0044
a0001c0001t0002g0054
a0001c0001t0002g0058
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0026c0018t0002g0018
 14 HG00408.hp2
HG01070.hp2
HG01109.hp2
others(11): Show 
HG00408.hp2
HG01070.hp2
HG01109.hp2
HG02027.hp2
HG03491.hp2
HG04115.hp2
HG04228.hp1
NA18973.hp2
NA18991.hp1
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19077.hp1
NA19078.hp1
 intron_variant MODIFIER c.1125+820_1125+821i
others(1362): Show 
c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA
ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG
ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA
TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC
CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT
CCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTC
TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT
CTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG
ATCTCATTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTC
CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC
TTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTC
TGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCT
CCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTC
TGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGA
CAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATTTC
CAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGT
CCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGG
GGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCT
AGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCC
CTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTC
TCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTGTCAT
TAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATCTCCAGATCTTCC
AGTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATTCACA
GGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGGGGCCACAGTT
CAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGT
CCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGT
GGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGT
CTGTGTCTCCTCTTCTGTCTCTTAGAAGGACA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310598
chrX:310598 C
C
 CTGTCCTT
others(1354): Show 
CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA
AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT
TTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAGATGA
GATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCT
AAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAG
GCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCC
AGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAA
CTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGT
CCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAG
GGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTG
GATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGA
AGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTG
GAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGG
AGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAA
CTGAAGTGAACTGAACTGTGGCCCCCCCACAAAAGACCTGTCCATGTATT
GATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGC
AGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGT
GGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGGAGAC
ACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGATGC
GGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGG
AAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAAGTGA
ACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCATCTGG
AACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGTGATT
AACTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTGGACCATAAA
TCTAATGACAGG
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.1125+820_1125+821i
others(1363): Show 
c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA
ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG
ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA
TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC
CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT
CCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTC
TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT
CTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG
ATCTCATTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTC
CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC
TTTTGTGGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCT
CTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGC
TCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGT
CTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGG
ACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATTT
CCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATG
TCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGG
GGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTC
TAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTC
CCTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTT
CTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTGTCA
TTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATCTCCAGATCTTC
CAGTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATTCAC
AGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGGGGCCACAGT
TCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGG
TCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTG
TGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTG
TCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310598
chrX:310598 C
C
 CTGTCCTT
others(1357): Show 
CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA
AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT
TTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAGATGA
GATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCT
AAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAG
GCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCC
AGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAA
CTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGT
CCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAG
GGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTG
GATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGA
AGAGGAGACACAGACACAGAGGAGAAGGCCACGTGGAGACGGAGGCAGAG
ACTGGAGTGGTGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGC
TGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGAT
CCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGT
ATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTC
TGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTGGATTAG
GGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGGA
GACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGA
TGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGGC
AGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAAG
TGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCATC
TGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGTG
ATTAACTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTGGACCAT
AAATCTAATGACAGG
 12 a0002c0005t0002g0006
a0003c0004t0001g0089
a0003c0004t0001g0091
others(9): Show 
a0002c0005t0002g0006
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0039t0002g0094
a0013c0016t0002g0009
a0022c0033t0002g0140
 13 HG00639.hp2
HG01167.hp1
HG01361.hp1
others(10): Show 
HG00639.hp2
HG01167.hp1
HG01361.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02080.hp1
HG02300.hp1
NA18973.hp1
NA18991.hp2
NA19011.hp1
NA19070.hp1
NA19078.hp2
 intron_variant MODIFIER c.1125+820_1125+821i
others(1366): Show 
c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA
ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG
ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA
TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC
CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT
CCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTC
TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT
CTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG
ATCTCATTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTC
CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC
TTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTC
TGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCT
CCAGGCGTCCCTGGGCTTGTGGCCGCACCACTCCAGTCTCTGCCTCCGTC
TCCACGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGA
AGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCA
TTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATA
ATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGT
GGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGG
CTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGC
GTCCCTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGC
CTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTG
TCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATCTCCAGATC
TTCCAGTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATT
CACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGGGGCCAC
AGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGGA
GGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGC
TTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCT
GTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310598
chrX:310598 C
C
 CTGTCCTT
others(1697): Show 
CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA
AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT
TTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAGATGA
GATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCT
AAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAG
GCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCC
AGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAA
CTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGT
CCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAG
GGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTG
GATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGA
AGAGGAGACACAGACACAGAGGAGAAGGCCACGTGGAGACGGAGGCAGAG
ACTGGAGTGGTGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGC
TGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGAT
CCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGT
ATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTC
TGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTGGATTAG
GGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGGA
GACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGA
TGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGGC
AGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAAG
TGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCATC
TGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGTG
ATTAAGTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTGGACCCT
AAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACA
CAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACA
AGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACC
CTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAAGTGAACTGAAC
TGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCATCTGGAACCTGT
GAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGA
AGATCTGGAAATGAGATCATCCTGGATTAGGGTGGACCATAAATCTAATG
ACAGG
 1 a0003c0004t0001g0086
a0003c0004t0001g0086
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.1125+820_1125+821i
others(1706): Show 
c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA
ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG
ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA
TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC
CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT
CCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTC
TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT
CTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG
ATCTCATTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTC
CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC
TTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTC
TGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCT
CCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTC
TGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGA
CAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATTTC
CAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGT
CCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGG
GGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCT
AGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCC
CTGGGCTTGTGGCCGCACCACTCCAGTCTCTGCCTCCGTCTCCACGTGGC
CTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACAGTAG
TCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATTTCCAGATC
TTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATT
CACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGGGGCCAC
AGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGGA
GGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGC
TTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCT
GTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTGTCATTAGATT
TAGGGTCCACCCTAATCCAGGATGATCTCATCTCCAGATCTTCCAGTTAA
TCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCC
AGATGATCAATACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTC
ACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCC
TGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGC
ATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGT
CTCCTCTTCTGTCTCTTAGAAGGACA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310598
chrX:310598 C
C
 CTGTCCTT
others(1358): Show 
CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA
AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT
TTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAGATGA
GATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCT
AAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAG
GCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCC
AGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAA
CTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGT
CCATGTATTGATCATCTGGAACCTGTGAATGGGGACATTATTTGGAAACA
GGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCT
GGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAG
AAGAGGAGACACAGACACAGAGGAGAAGGCCACGTGGAGACGGAGGCAGA
GACTGGAGTGGTGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAG
CTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGA
TCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATG
TATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCT
CTGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTGGATTA
GGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGG
AGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTG
ATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGG
CAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAA
GTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCAT
CTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGT
GATTAACTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTGGACCA
TAAATCTAATGACAGG
 1 a0003c0038t0001g0097
a0003c0038t0001g0097
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.1125+820_1125+821i
others(1367): Show 
c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA
ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG
ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA
TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC
CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT
CCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTC
TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT
CTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG
ATCTCATTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTC
CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC
TTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTC
TGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCT
CCAGGCGTCCCTGGGCTTGTGGCCGCACCACTCCAGTCTCTGCCTCCGTC
TCCACGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGA
AGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCA
TTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATA
ATGTCCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTG
TGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAG
GCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGG
CGTCCCTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGG
CCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCT
GTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATCTCCAGAT
CTTCCAGTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCAT
TCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGGGGCCA
CAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGG
AGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGG
CTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTC
TGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310598
chrX:310598 C
C
 CTGTCCTT
others(1353): Show 
CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA
AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT
TTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAGATGA
GATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCT
AAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAG
GCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCC
AGGAGCTGGGAGAGGCAGGAATGACCCTCCCCTAGAGCCTCCAGAGGGAA
CTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGT
CCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAG
GGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTG
GATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGA
AGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTG
GAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGG
AGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAA
CTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTG
ATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCA
GATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTG
GACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGGAGACA
CAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGATGCG
GCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGGA
AGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAAGTGAA
CTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCATCTGGA
ACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGTGATTA
ACTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTGGACCATAAAT
CTAATGACAGG
 1 a0001c0001t0002g0055
a0001c0001t0002g0055
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.1125+820_1125+821i
others(1362): Show 
c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA
ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG
ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA
TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC
CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT
CCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTC
TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT
CTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG
ATCTCATTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTC
CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC
TTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTC
TGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCT
CCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTC
TGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGA
CAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATTTC
CAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGT
CCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGG
GGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCT
AGGGGAGGGTCATTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCC
CTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTC
TCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTGTCAT
TAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATCTCCAGATCTTCC
AGTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATTCACA
GGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGGGGCCACAGTT
CAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGT
CCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGT
GGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGT
CTGTGTCTCCTCTTCTGTCTCTTAGAAGGACA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310598
chrX:310598 C
C
 CTGTCCTT
others(673): Show 
CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA
AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT
TTGGAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAAATGA
GATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCT
AAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAG
GCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCC
AGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAA
CTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGT
CCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAG
GGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAAATGAGATCATCCTG
GATTAGGGTGGACCATAAATCTAATGACAGG
 31 a0001c0001t0001g0039
a0001c0001t0002g0003
a0001c0001t0002g0004
others(28): Show 
a0001c0001t0001g0039
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0069
a0002c0002t0002g0125
a0002c0005t0002g0121
a0002c0005t0002g0130
a0004c0007t0002g0012
a0004c0007t0002g0014
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0020c0025t0002g0051
a0025c0020t0002g0026
 33 HG00423.hp1
HG00733.hp1
HG00735.hp1
others(30): Show 
HG00423.hp1
HG00733.hp1
HG00735.hp1
HG01074.hp2
HG01169.hp1
HG01175.hp2
HG01943.hp1
HG02080.hp2
HG02129.hp2
HG02273.hp1
HG02273.hp2
HG03490.hp2
HG03834.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18984.hp1
NA18985.hp1
NA18992.hp1
NA18993.hp1
NA19002.hp1
NA19011.hp2
NA19064.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+820_1125+821i
others(682): Show 
c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA
ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG
ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA
TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC
CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT
CCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTC
TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT
CTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG
ATCTCATTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTC
CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC
TTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTC
TGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCT
CCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTC
TGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGA
CA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310598
chrX:310598 C
C
 CTGTCCTT
others(1358): Show 
CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCCAC
AAAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTA
TTTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAGATG
AGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGTGTCCTTC
TAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGA
GGCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCC
CAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGA
ACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTG
TCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACA
GGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCT
GGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAG
AAGAGGAGACACAGACACAGAGGAGAAGGCCACGTGGAGACGGAGGCAGA
GACTGGAGTGGTGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAG
CTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGA
TCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATG
TATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCT
CTGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTGGATTA
GGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGG
AGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTG
ATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGGAGAGG
CAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAA
GTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTGATCAT
CTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCAGATGT
GATTAACTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTGGACCA
TAAATCTAATGACAGG
 1 a0003c0004t0002g0099
a0003c0004t0002g0099
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.1125+820_1125+821i
others(1367): Show 
c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA
ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG
ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA
TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC
CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT
CCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTC
TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT
CTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG
ATCTCATTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTC
CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC
TTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTC
TGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCT
CCAGGCGTCCCTGGGCTTGTGGCCGCACCACTCCAGTCTCTGCCTCCGTC
TCCACGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGA
AGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCA
TTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATA
ATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGT
GGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGG
CTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGC
GTCCCTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGC
CTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTG
TCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATCTCCAGATC
TTCCAGTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATT
CACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGGGGGCCA
CAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGG
AGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGG
CTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTC
TGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310598
chrX:310598 C
C
 CTGTCCTT
others(677): Show 
CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACGTGGAGACGGAGGCAGAGACTGGAGTGGTGCGGCCACAAGCCCAGGGA
CGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGA
GCCTCCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCC
CACAAAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACA
TTATTTGGAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAA
ATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCC
TTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGAC
AGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGC
CCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAG
GGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGAC
CTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAA
ACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAAATGAGATCAT
CCTGGATTAGGGTGGACCATAAATCTAATGACAGG
 1 a0027c0040t0002g0148
a0027c0040t0002g0148
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.1125+820_1125+821i
others(686): Show 
c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA
ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG
ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA
TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC
CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT
CCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTC
TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT
CTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG
ATCTCATTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTC
CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC
TTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTC
TGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCT
CCAGGCGTCCCTGGGCTTGTGGCCGCACCACTCCAGTCTCTGCCTCCGTC
TCCACGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGA
AGGACA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310598
chrX:310598 C
C
 G
G
 6 a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0002t0001g0114
others(3): Show 
a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0002t0001g0114
a0002c0005t0004g0076
a0005c0019t0001g0022
a0010c0031t0005g0104
 6 HG01123.hp2
HG02109.hp2
HG02451.hp1
others(3): Show 
HG01123.hp2
HG02109.hp2
HG02451.hp1
HG02735.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1125+821G>C
c.1125+821G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310598
chrX:310621 G
G
 A
A
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+798C>T
c.1125+798C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310621
chrX:310681 T
T
 A
A
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1125+738A>T
c.1125+738A>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310681
chrX:310694 C
C
 T
T
 9 a0001c0003t0001g0072
a0007c0008t0001g0011
a0007c0008t0001g0021
others(6): Show 
a0001c0003t0001g0072
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
a0023c0035t0004g0147
 10 HG00741.hp1
HG02258.hp2
HG02970.hp2
others(7): Show 
HG00741.hp1
HG02258.hp2
HG02970.hp2
HG03195.hp1
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1125+725G>A
c.1125+725G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310694
chrX:310738 C
C
 CCTAGAGC
others(1353): Show 
CCTAGAGCCTCCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTG
GCCCCCCACAAAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAAT
GGGACATTATTTGGAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGAT
CTGGAAATGAGATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACTA
CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC
ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC
TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT
CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA
AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT
TTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAGATGA
GATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACAGGTGTCCTTCT
AAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAG
GCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCC
AGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAA
CTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGT
CCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAG
GGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTG
GATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGA
AGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTG
GAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCCAGGAGCTGGG
AGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAACTGGATCCAA
CTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGTCCATGTATTG
ATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAGGGTCTCTGCA
GATGTGATTAAGTGGAAGATCTGGAAATGAGATCATCCTGGATTAGGGTG
GACCCTAAATCTAATGACTACTGTCCTTCTAAGAGACAGAAGAGGAGACA
CAGACACAGAGGAGAAGGCCACAGACAGAGGCAGAGACTGGAGTGATGCG
GCCTCAAGCCCAGGGATGCCTGGAGCCCCCAGGAGCTGGGAGAGGCAGGA
AGGACCCTCCT
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1125+680_1125+681i
others(1362): Show 
c.1125+680_1125+681insAGGAGGGTCCTTCCTGCCTCTCCCAGCT
CCTGGGGGCTCCAGGCATCCCTGGGCTTGAGGCCGCATCACTCCAGTCTC
TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT
CTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG
ATCTCATTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTC
CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC
TTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTC
TGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCT
CCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTC
TGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGA
CAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATTTC
CAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGT
CCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGG
GGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCT
AGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCC
CTGGGCTTGAGGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTC
TCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGACACCTGTCAT
TAGATTTAGGGTCCACCCTAATCCAGGATGATCTCATCTCCAGATCTTCC
AGTTAATCACATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATTCACA
GGTTCCAGATGATCAATACATGGACAGGTCTTTTGTGGGGGGCCACAGTT
CAGTTCACTTCAGTTGGATCCAGTTCCCTCTGGAGGCTCTAGGGGAGGGT
CCTTCCTGCCTCTCCCAGCTCCTGGGGGCTCCAGGCGTCCCTGGGCTTGT
GGCCGCATCACTCCAGTCTCTGCCTCTGTCTGTGGCCTTCTCCTCTGTGT
CTGTGTCTCCTCTTCTGTCTCTTAGAAGGACAGTAGTCATTAGATTTAGG
GTCCACCCTAATCCAGGATGATCTCATTTCCAGATCTTCCACTTAATCAC
ATCTGCAGAGACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGAT
GATCAATACATGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTT
CAGTTGGATCCAGTTCCCTCTGGAGGCTCTAG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310738
chrX:310738 C
C
 T
T
 10 a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
others(7): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0036t0001g0071
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 11 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(8): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1125+681G>A
c.1125+681G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310738
chrX:310783 C
C
 T
T
 90 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(87): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0017c0028t0005g0078
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 95 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(92): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+636G>A
c.1125+636G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310783
chrX:310818 C
C
 A
A
 2 a0001c0003t0003g0145
a0002c0036t0001g0071
a0001c0003t0003g0145
a0002c0036t0001g0071
 2 HG02615.hp2
HG03130.hp2
HG02615.hp2
HG03130.hp2
 intron_variant MODIFIER c.1125+601G>T
c.1125+601G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310818
chrX:310913 C
C
 T
T
 1 a0004c0007t0002g0012
a0004c0007t0002g0012
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1125+506G>A
c.1125+506G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310913
chrX:310916 A
A
 AC
AC
 1 a0003c0038t0001g0097
a0003c0038t0001g0097
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.1125+502dupG
c.1125+502dupG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310916
chrX:310917 C
C
 T
T
 9 a0001c0003t0001g0072
a0002c0005t0001g0079
a0007c0008t0001g0011
others(6): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 10 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(7): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1125+502G>A
c.1125+502G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310917
chrX:310935 T
T
 TC
TC
 1 a0003c0038t0001g0097
a0003c0038t0001g0097
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.1125+483dupG
c.1125+483dupG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310935
chrX:310939 T
T
 TCTCA
TCTCA
 75 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(72): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 79 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(76): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG03130.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+479_1125+480i
others(6): Show 
c.1125+479_1125+480insTGAG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310939
chrX:310942 G
G
 T
T
 1 a0002c0002t0001g0128
a0002c0002t0001g0128
 1 NA18942.hp1
NA18942.hp1
 intron_variant MODIFIER c.1125+477C>A
c.1125+477C>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310942
chrX:310953 G
G
 T
T
 9 a0001c0003t0001g0072
a0002c0005t0001g0079
a0007c0008t0001g0011
others(6): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 10 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(7): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1125+466C>A
c.1125+466C>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310953
chrX:310961 C
C
 T
T
 75 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(72): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 79 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(76): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG03130.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+458G>A
c.1125+458G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 310961
chrX:311055 C
C
 T
T
 43 a0001c0001t0001g0036
a0001c0001t0001g0098
a0001c0003t0001g0005
others(40): Show 
a0001c0001t0001g0036
a0001c0001t0001g0098
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0003c0038t0001g0097
a0004c0006t0001g0020
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0019t0001g0022
a0010c0031t0005g0104
a0024c0032t0001g0108
a0029c0015t0001g0008
 44 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(41): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG02040.hp1
HG02109.hp2
HG02155.hp1
HG02451.hp1
HG02735.hp2
HG03491.hp1
HG03654.hp2
HG03834.hp2
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp1
NA18956.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp2
NA18983.hp1
NA18999.hp2
NA19002.hp2
NA19043.hp2
NA19057.hp1
NA19058.hp2
NA19077.hp2
NA19081.hp1
NA19085.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1125+364G>A
c.1125+364G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311055
chrX:311069 T
T
 C
C
 128 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(125): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0001g0072
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0017c0028t0005g0078
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
a0029c0015t0001g0008
 134 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(131): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03654.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1125+350A>G
c.1125+350A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311069
chrX:311117 G
G
 A
A
 1 a0001c0024t0003g0106
a0001c0024t0003g0106
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1125+302C>T
c.1125+302C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311117
chrX:311134 G
G
 C
C
 9 a0001c0003t0001g0072
a0002c0005t0001g0079
a0007c0008t0001g0011
others(6): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 10 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(7): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1125+285C>G
c.1125+285C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311134
chrX:311161 G
G
 A
A
 1 a0010c0031t0005g0104
a0010c0031t0005g0104
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1125+258C>T
c.1125+258C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311161
chrX:311185 T
T
 TTGTGTGG
others(25): Show 
TTGTGTGGGTGTCCGAAGGCCCGGCCCCTGGGC
 75 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(72): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 79 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(76): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG03130.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+233_1125+234i
others(34): Show 
c.1125+233_1125+234insGCCCAGGGGCCGGGCCTTCGGACACCCA
CACA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311185
chrX:311188 G
G
 A
A
 75 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(72): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 79 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(76): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG03130.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+231C>T
c.1125+231C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311188
chrX:311188 G
G
 T
T
 3 a0002c0005t0004g0076
a0017c0028t0005g0078
a0021c0027t0004g0083
a0002c0005t0004g0076
a0017c0028t0005g0078
a0021c0027t0004g0083
 3 HG02615.hp1
HG03195.hp2
NA18906.hp2
HG02615.hp1
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+231C>A
c.1125+231C>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311188
chrX:311198 T
T
 C
C
 77 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(74): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0017c0028t0005g0078
a0020c0025t0002g0051
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 81 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(78): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+221A>G
c.1125+221A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311198
chrX:311198 T
T
 TGAAGGCC
others(25): Show 
TGAAGGCCCGGCCCCTGGGCTGAGTGGGTGTCC
 1 a0021c0027t0004g0083
a0021c0027t0004g0083
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1125+220_1125+221i
others(34): Show 
c.1125+220_1125+221insGGACACCCACTCAGCCCAGGGGCCGGGC
CTTC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311198
chrX:311201 G
G
 A
A
 78 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(75): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0017c0028t0005g0078
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 82 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(79): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+218C>T
c.1125+218C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311201
chrX:311206 C
C
 G
G
 1 a0001c0003t0001g0072
a0001c0003t0001g0072
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1125+213G>C
c.1125+213G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311206
chrX:311210 C
C
 T
T
 9 a0001c0003t0001g0072
a0002c0005t0001g0079
a0007c0008t0001g0011
others(6): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 10 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(7): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1125+209G>A
c.1125+209G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311210
chrX:311213 T
T
 TG
TG
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+205dupC
c.1125+205dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311213
chrX:311218 T
T
 G
G
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+201A>C
c.1125+201A>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311218
chrX:311219 T
T
 A
A
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+200A>T
c.1125+200A>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311219
chrX:311223 T
T
 G
G
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+196A>C
c.1125+196A>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311223
chrX:311229 T
T
 C
C
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+190A>G
c.1125+190A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311229
chrX:311229 T
T
 TGAGTGCC
others(147): Show 
TGAGTGCCTGGCCCCCGTGCCCAGTGGGTGTCCGAGGGCCTGGCCCCTGG
GCTGAGTGGGTGTCCGAGGGCCCGGCCCCTGGGCTGAGTGGGTGTCTGAG
GGCCCGACCCCTGGCTGTGTGTGTCTGAGGGCCCGACCCCTGGCTGTGTG
TGTCC
 9 a0001c0003t0001g0072
a0002c0005t0001g0079
a0007c0008t0001g0011
others(6): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 10 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(7): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1125+189_1125+190i
others(156): Show 
c.1125+189_1125+190insGGACACACACAGCCAGGGGTCGGGCCCT
CAGACACACACAGCCAGGGGTCGGGCCCTCAGACACCCACTCAGCCCAGG
GGCCGGGCCCTCGGACACCCACTCAGCCCAGGGGCCAGGCCCTCGGACAC
CCACTGGGCACGGGGGCCAGGCACTC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311229
chrX:311233 T
T
 G
G
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+186A>C
c.1125+186A>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311233
chrX:311237 T
T
 C
C
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+182A>G
c.1125+182A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311237
chrX:311239 GT
GT
 G
G
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+179delA
c.1125+179delA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311239
chrX:311240 T
T
 C
C
 85 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(82): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 90 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(87): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+179A>G
c.1125+179A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311240
chrX:311245 G
G
 T
T
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+174C>A
c.1125+174C>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311245
chrX:311246 T
T
 G
G
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+173A>C
c.1125+173A>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311246
chrX:311249 C
C
 T
T
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+170G>A
c.1125+170G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311249
chrX:311250 C
C
 G
G
 1 a0010c0029t0005g0077
a0010c0029t0005g0077
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1125+169G>C
c.1125+169G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311250
chrX:311250 C
C
 T
T
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+169G>A
c.1125+169G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311250
chrX:311251 A
A
 T
T
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+168T>A
c.1125+168T>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311251
chrX:311255 G
G
 T
T
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+164C>A
c.1125+164C>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311255
chrX:311261 C
C
 T
T
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+158G>A
c.1125+158G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311261
chrX:311265 G
G
 T
T
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+154C>A
c.1125+154C>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311265
chrX:311276 T
T
 C
C
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+143A>G
c.1125+143A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311276
chrX:311278 G
G
 T
T
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+141C>A
c.1125+141C>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311278
chrX:311281 T
T
 C
C
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+138A>G
c.1125+138A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311281
chrX:311282 G
G
 C
C
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+137C>G
c.1125+137C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311282
chrX:311293 C
C
 T
T
 75 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(72): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 79 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(76): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG03130.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+126G>A
c.1125+126G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311293
chrX:311297 G
G
 GGCCCGAC
others(54): Show 
GGCCCGACCCCTGGCTGTGTGTGTCCGAGTGCCCAGCCCCCGTGCCGAGT
GGGTGTCTGAGA
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1125+121_1125+122i
others(63): Show 
c.1125+121_1125+122insTCTCAGACACCCACTCGGCACGGGGGCT
GGGCACTCGGACACACACAGCCAGGGGTCGGGC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311297
chrX:311297 G
G
 GGCCCGAC
others(54): Show 
GGCCCGACCCCTGGCTGTGTGTGTCTGAGTGCCCAGCCCCCGTGCCGAGT
GGGTGTCTGAGA
 73 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(70): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 77 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(74): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG03130.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+121_1125+122i
others(63): Show 
c.1125+121_1125+122insTCTCAGACACCCACTCGGCACGGGGGCT
GGGCACTCAGACACACACAGCCAGGGGTCGGGC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311297
chrX:311297 G
G
 GGCCCGAC
others(151): Show 
GGCCCGACCCCTGGCTGTGTGTGTCTGAGTGCCCAGCCCCCGTGCCGAGT
GGGTGTCTGAGAGCCCGGCCCCTGGGCAGGGTGGGTGTCCGAGAGCCTGG
CCCCTGGCTGTGTGTGTGTGTCTGAGTGCCCAGCCCCCGTGCCGAGTGGG
TGTCTGAGA
 1 a0001c0003t0003g0028
a0001c0003t0003g0028
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1125+121_1125+122i
others(160): Show 
c.1125+121_1125+122insTCTCAGACACCCACTCGGCACGGGGGCT
GGGCACTCAGACACACACACACAGCCAGGGGCCAGGCTCTCGGACACCCA
CCCTGCCCAGGGGCCGGGCTCTCAGACACCCACTCGGCACGGGGGCTGGG
CACTCAGACACACACAGCCAGGGGTCGGGC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311297
chrX:311301 C
C
 T
T
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+118G>A
c.1125+118G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311301
chrX:311303 G
G
 T
T
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.1125+116C>A
c.1125+116C>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311303
chrX:311313 T
T
 A
A
 74 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(71): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 78 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(75): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG03130.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+106A>T
c.1125+106A>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311313
chrX:311315 A
A
 G
G
 74 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(71): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 78 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(75): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG03130.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+104T>C
c.1125+104T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311315
chrX:311329 G
G
 A
A
 76 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(73): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0017c0028t0005g0078
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 80 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(77): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp2
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+90C>T
c.1125+90C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311329
chrX:311333 C
C
 T
T
 74 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(71): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 78 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(75): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG03130.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+86G>A
c.1125+86G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311333
chrX:311335 A
A
 G
G
 74 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(71): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 78 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(75): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG03130.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+84T>C
c.1125+84T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311335
chrX:311343 C
C
 CTGTG
CTGTG
 74 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(71): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 78 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(75): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG03130.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+72_1125+75dup
others(4): Show 
c.1125+72_1125+75dupCACA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311343
chrX:311343 C
C
 CTGTGTGT
others(90): Show 
CTGTGTGTGTCTGAGTGCCCAGCCCCCGTGCCGAGTGGGTGTCTGAGAGC
CCGGCCCCTGGGCAGGGTGGGTGTCCGAGAGCCTGGCCCCTGGCTGTG
 1 a0010c0031t0005g0104
a0010c0031t0005g0104
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1125+75_1125+76ins
others(97): Show 
c.1125+75_1125+76insCACAGCCAGGGGCCAGGCTCTCGGACACCC
ACCCTGCCCAGGGGCCGGGCTCTCAGACACCCACTCGGCACGGGGGCTGG
GCACTCAGACACACACA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311343
chrX:311347 G
G
 A
A
 9 a0001c0003t0001g0072
a0002c0005t0001g0079
a0007c0008t0001g0011
others(6): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 10 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(7): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1125+72C>T
c.1125+72C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311347
chrX:311377 A
A
 G
G
 89 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(86): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0072
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0017c0028t0005g0078
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 94 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(91): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02129.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.1125+42T>C
c.1125+42T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311377
chrX:311389 G
G
 A
A
 9 a0001c0003t0001g0072
a0002c0005t0001g0079
a0007c0008t0001g0011
others(6): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 10 HG00741.hp1
HG02258.hp2
HG02717.hp1
others(7): Show 
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02970.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.1125+30C>T
c.1125+30C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311389
chrX:311405 C
C
 T
T
 1 a0010c0031t0005g0104
a0010c0031t0005g0104
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1125+14G>A
c.1125+14G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 7/9 chrX 311405
chrX:311661 A
A
 G
G
 1 a0006c0011t0003g0142
a0006c0011t0003g0142
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.917-34T>C
c.917-34T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 311661
chrX:311662 T
T
 C
C
 26 a0001c0003t0001g0072
a0001c0003t0002g0101
a0001c0003t0003g0028
others(23): Show 
a0001c0003t0001g0072
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0061
a0001c0003t0003g0112
a0001c0003t0003g0145
a0002c0002t0001g0074
a0002c0002t0001g0113
a0002c0005t0001g0079
a0002c0005t0004g0076
a0002c0036t0001g0071
a0004c0006t0003g0013
a0004c0006t0003g0015
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0015c0022t0004g0103
a0017c0028t0005g0078
a0019c0026t0001g0048
a0021c0027t0004g0083
 27 HG00099.hp1
HG00140.hp2
HG00741.hp1
others(24): Show 
HG00099.hp1
HG00140.hp2
HG00741.hp1
HG00741.hp2
HG01169.hp2
HG01346.hp2
HG02055.hp1
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03017.hp1
HG03130.hp2
HG03195.hp2
HG03942.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
NA20129.hp2
 intron_variant MODIFIER c.917-35A>G
c.917-35A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 311662
chrX:311724 T
T
 TG
TG
 1 a0022c0033t0002g0140
a0022c0033t0002g0140
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.917-98dupC
c.917-98dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 311724
chrX:311770 C
C
 T
T
 2 a0002c0005t0004g0076
a0017c0028t0005g0078
a0002c0005t0004g0076
a0017c0028t0005g0078
 2 HG03195.hp2
NA18906.hp2
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.917-143G>A
c.917-143G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 311770
chrX:311783 C
C
 A
A
 4 a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0005t0004g0076
others(1): Show 
a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0005t0004g0076
a0017c0028t0005g0078
 4 HG02109.hp2
HG02451.hp1
HG03195.hp2
others(1): Show 
HG02109.hp2
HG02451.hp1
HG03195.hp2
NA18906.hp2
 intron_variant MODIFIER c.917-156G>T
c.917-156G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 311783
chrX:311784 C
C
 T
T
 2 a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0084
a0001c0003t0002g0085
 2 HG02109.hp2
HG02451.hp1
HG02109.hp2
HG02451.hp1
 intron_variant MODIFIER c.917-157G>A
c.917-157G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 311784
chrX:311787 C
C
 T
T
 1 a0002c0002t0001g0074
a0002c0002t0001g0074
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.917-160G>A
c.917-160G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 311787
chrX:311817 C
C
 T
T
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.917-190G>A
c.917-190G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 311817
chrX:311844 G
G
 A
A
 1 a0009c0012t0002g0041
a0009c0012t0002g0041
 1 NA19081.hp2
NA19081.hp2
 intron_variant MODIFIER c.917-217C>T
c.917-217C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 311844
chrX:311854 GAGA
GAGA
 G
G
 67 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(64): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0002c0002t0001g0139
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0020c0025t0002g0051
a0022c0033t0002g0140
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 71 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(68): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG03490.hp2
HG03491.hp2
HG03654.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.917-230_917-228del
others(3): Show 
c.917-230_917-228delTCT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 311854
chrX:311858 T
T
 C
C
 67 a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
others(64): Show 
a0001c0001t0001g0002
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0002c0002t0001g0139
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0012c0013t0001g0134
a0013c0016t0002g0009
a0020c0025t0002g0051
a0022c0033t0002g0140
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 71 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(68): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG03490.hp2
HG03491.hp2
HG03654.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.917-231A>G
c.917-231A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 311858
chrX:311870 CG
CG
 C
C
 13 a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
others(10): Show 
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0005t0004g0076
a0002c0036t0001g0071
a0010c0031t0005g0104
a0012c0013t0001g0146
a0014c0023t0001g0075
a0015c0022t0004g0103
a0017c0028t0005g0078
a0021c0027t0004g0083
a0023c0035t0004g0147
 13 HG00741.hp2
HG02109.hp2
HG02258.hp2
others(10): Show 
HG00741.hp2
HG02109.hp2
HG02258.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.917-244delC
c.917-244delC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 311870
chrX:312043 C
C
 T
T
 1 a0003c0004t0002g0087
a0003c0004t0002g0087
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.917-416G>A
c.917-416G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312043
chrX:312128 A
A
 ATGGGGCA
others(1836): Show 
ATGGGGCAGTGGTGCTGGTGTAGACAGGAGGACAGTGTAGACGAAGGGGA
CATTGTGGTGTACACAGGTGGATTATGTAGACGGGGTGGTGGTATAGATG
GGGCAGCGGTGCTGGTGTAGACAGGAGGACAGTGTAGACGAAGGGGACAT
TGTGGTGTACACAGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGG
CAGTGGTGCCAGTGTAGACAGGAGGACAGTGCAGACGAAGGGGACATTGT
GGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAG
TGGTGCCAGTGTAGACAGGAGGACGGTGCAGACGAAGGGAACATTGTGGT
GTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGG
TGCCAGTGTAGACAGGAGGACGGTGCAGACGAAGGGGACATTGTGGTGTA
CACGGGTGGATTATGTAGACGGGGTGGTGGTATAGATGGGGCAGCAGTGC
TGGTGTAGACAGGAGGACGGTGCAGACGAAGGGGACATTGTGGTGTACAC
GGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCAG
TGTAGACAGGAGGACAGTGTAGACGAAGGGGACATTGTGGTGTACACGGG
TGGATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGT
AGACAGGAGGACGGTGCAGACGAAGGGGACATTGTGGTGTACACAGGTGG
ATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGA
CAGGAGGACGGTGCAGACGAAGGGGACATTGTGGTGTACACGGGTGGATT
ATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAG
GAGGACGGTGCAGACGAAGGGGACATTGTGGTGTACACGGGTGGATTATG
TAGACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAGGAG
GACGGTGCAGACAAAGGGAACATTGTGGTGTACACGGGTGGATTATGTAG
ACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAGGAGGAC
GGTGCAGACGAAGGGGACATTGTGGTGTACACAGGTGGATTATGTAGACG
GGGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGT
GCAGACGAAGGGGACATTGTGGTGTACACGGGTGGATTATGTAGACGGGG
TGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCA
GACGAAGGGAACATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGG
TGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGAC
AAAGGGAACATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGG
TATAGATGGGGTAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACGAA
GGGGACATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTAT
AGCTGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACAAAGGG
AACATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGC
TGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACGAAGGGGAC
ATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGATGG
GGTAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACGAAGGGGACATT
GTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGC
 1 a0001c0003t0003g0145
a0001c0003t0003g0145
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.917-502_917-501ins
others(1843): Show 
c.917-502_917-501insGCTATACCACCACCCCGTCTACATAATCCA
CCCGTGTACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACA
CTGGCACCACTACCCCATCTATACCACCACCCCGTCTACATAATCCACCC
GTGTACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTG
GCACCACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCACCCGTG
TACACCACAATGTTCCCTTTGTCTGCACCGTCCTCCTGTCTACACTGGCA
CCACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCACCCGTGTAC
ACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGCACCA
CTACCCCATCTATACCACCACCCCGTCTACATAATCCACCCGTGTACACC
ACAATGTTCCCTTTGTCTGCACCGTCCTCCTGTCTACACTGGCACCACTG
CCCCAGCTATACCACCACCCCGTCTACATAATCCACCCGTGTACACCACA
ATGTTCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGCACCACTGCCC
CAGCTATACCACCACCCCGTCTACATAATCCACCCGTGTACACCACAATG
TCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGCACCACTGCCCCAG
CTATACCACCACCCCGTCTACATAATCCACCTGTGTACACCACAATGTCC
CCTTCGTCTGCACCGTCCTCCTGTCTACACTGGCACCACTGCCCCAGCTA
TACCACCACCCCGTCTACATAATCCACCCGTGTACACCACAATGTTCCCT
TTGTCTGCACCGTCCTCCTGTCTACACTGGCACCACTGCCCCAGCTATAC
CACCACCCCGTCTACATAATCCACCCGTGTACACCACAATGTCCCCTTCG
TCTGCACCGTCCTCCTGTCTACACTGGCACCACTGCCCCAGCTATACCAC
CACCCCGTCTACATAATCCACCCGTGTACACCACAATGTCCCCTTCGTCT
GCACCGTCCTCCTGTCTACACTGGCACCACTGCCCCAGCTATACCACCAC
CCCGTCTACATAATCCACCTGTGTACACCACAATGTCCCCTTCGTCTGCA
CCGTCCTCCTGTCTACACTGGCACCACTGCCCCAGCTATACCACCACCCC
GTCTACATAATCCACCCGTGTACACCACAATGTCCCCTTCGTCTACACTG
TCCTCCTGTCTACACTGGCACCACTGCCCCAGCTATACCACCACCCCGTC
TACATAATCCACCCGTGTACACCACAATGTCCCCTTCGTCTGCACCGTCC
TCCTGTCTACACCAGCACTGCTGCCCCATCTATACCACCACCCCGTCTAC
ATAATCCACCCGTGTACACCACAATGTCCCCTTCGTCTGCACCGTCCTCC
TGTCTACACTGGCACCACTGCCCCAGCTATACCACCACCCCGTCTACATA
ATCCACCCGTGTACACCACAATGTTCCCTTCGTCTGCACCGTCCTCCTGT
CTACACTGGCACCACTGCCCCAGCTATACCACCACCCCGTCTACATAATC
CACCCGTGTACACCACAATGTCCCCTTCGTCTGCACTGTCCTCCTGTCTA
CACTGGCACCACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCAC
CTGTGTACACCACAATGTCCCCTTCGTCTACACTGTCCTCCTGTCTACAC
CAGCACCGCTGCCCCATCTATACCACCACCCCGTCTACATAATCCACCTG
TGTACACCACAATGTCCCCTTCGTCTACACTGTCCTCCTGTCTACACCAG
CACCACTGCCCCA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312128
chrX:312131 G
G
 C
C
 2 a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0084
a0001c0003t0002g0085
 2 HG02109.hp2
HG02451.hp1
HG02109.hp2
HG02451.hp1
 intron_variant MODIFIER c.917-504C>G
c.917-504C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312131
chrX:312131 G
G
 T
T
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.917-504C>A
c.917-504C>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312131
chrX:312134 C
C
 CAGCGGTG
others(90): Show 
CAGCGGTGCTGGTGTAGACAGGAGGACGGTGTAGACGAAGGGGACATTGT
GGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGATGGGGT
 7 a0001c0001t0002g0004
a0005c0010t0001g0024
a0009c0012t0002g0041
others(4): Show 
a0001c0001t0002g0004
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0017c0028t0005g0078
a0021c0027t0004g0083
 8 HG00423.hp1
HG01943.hp1
HG02080.hp2
others(5): Show 
HG00423.hp1
HG01943.hp1
HG02080.hp2
HG02273.hp2
HG02615.hp1
HG03195.hp2
NA18906.hp1
NA19081.hp2
 intron_variant MODIFIER c.917-508_917-507ins
others(97): Show 
c.917-508_917-507insACCCCATCTATACCACCACCCCGTCTACAT
AATCCACCCGTGTACACCACAATGTCCCCTTCGTCTACACCGTCCTCCTG
TCTACACCAGCACCGCT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312134
chrX:312134 C
C
 CAGTGGTG
others(1157): Show 
CAGTGGTGCTGGTGTAGACAGGAGGACAGTGTAGACGAAGGGGACATTGT
GGTGTACACAGGTGGATTATGTAGACGGGGTGGTGGTATAGATGGGGCAG
CGGTGCTGGTGTAGACAGGAGGACAGTGTAGACGAAGGGGACATTGTGGT
GTACACAGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGG
TGCCAGTGTAGACAGGAGGACAGTGCAGACGAAGGGGACATTGTGGTGTA
CACGGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGGTGC
CAGTGTAGACAGGAGGACGGTGCAGACGAAGGGAACATTGTGGTGTACAC
GGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCAG
TGTAGACAGGAGGACGGTGCAGACGAAGGGGACATTGTGGTGTACACGGG
TGGATTATGTAGACGGGGTGGTGGTATAGATGGGGCAGCGGTGCTGGTGT
AGACAGGAGGACGGTGCAGACGAAGGGGACATTGTGGTGTACACGGGTGG
ATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGA
CAGGAGGACAGTGTAGACGAAGGGGACATTGTGGTGTACACGGGTGGATT
ATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAG
GAGGACGGTGCAGACGAAGGGGACATTGTGGTGTACACAGGTGGATTATG
TAGACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAGGAG
GACGGTGCAGACGAAGGGGACATTGTGGTGTACACGGGTGGATTATGTAG
ACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAGGAGGAC
GGTGCAGACGAAGGGGACATTGTGGTGTACACGGGTGGATTATGTAGACG
GGGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGT
GCAGACAAAGGGAACATTGTGGTGTACACGGGTGGATTATGTAGACGGGG
TGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCA
GACAAAGGGAACATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGG
TGGTATAGATGGGGT
 1 a0002c0036t0001g0071
a0002c0036t0001g0071
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.917-508_917-507ins
others(1164): Show 
c.917-508_917-507insACCCCATCTATACCACCACCCCGTCTACAT
AATCCACCCGTGTACACCACAATGTTCCCTTTGTCTGCACCGTCCTCCTG
TCTACACTGGCACCACTGCCCCAGCTATACCACCACCCCGTCTACATAAT
CCACCCGTGTACACCACAATGTTCCCTTTGTCTGCACCGTCCTCCTGTCT
ACACTGGCACCACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCA
CCCGTGTACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACA
CTGGCACCACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCACCC
GTGTACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTG
GCACCACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCACCTGTG
TACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGCA
CCACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCACCCGTGTAC
ACCACAATGTCCCCTTCGTCTACACTGTCCTCCTGTCTACACTGGCACCA
CTGCCCCAGCTATACCACCACCCCGTCTACATAATCCACCCGTGTACACC
ACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACCAGCACCGCTG
CCCCATCTATACCACCACCCCGTCTACATAATCCACCCGTGTACACCACA
ATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGCACCACTGCCC
CAGCTATACCACCACCCCGTCTACATAATCCACCCGTGTACACCACAATG
TTCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGCACCACTGCCCCAG
CTATACCACCACCCCGTCTACATAATCCACCCGTGTACACCACAATGTCC
CCTTCGTCTGCACTGTCCTCCTGTCTACACTGGCACCACTGCCCCAGCTA
TACCACCACCCCGTCTACATAATCCACCTGTGTACACCACAATGTCCCCT
TCGTCTACACTGTCCTCCTGTCTACACCAGCACCGCTGCCCCATCTATAC
CACCACCCCGTCTACATAATCCACCTGTGTACACCACAATGTCCCCTTCG
TCTACACTGTCCTCCTGTCTACACCAGCACCACT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312134
chrX:312137 T
T
 C
C
 76 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(73): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0072
a0001c0003t0002g0101
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0029t0005g0077
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0019c0026t0001g0048
a0020c0025t0002g0051
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 80 HG00408.hp2
HG00558.hp2
HG00639.hp2
others(77): Show 
HG00408.hp2
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02055.hp1
HG02080.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02717.hp1
HG02970.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.917-510A>G
c.917-510A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312137
chrX:312137 T
T
 CGGTGCTG
others(90): Show 
CGGTGCTGGTGTAGACAGGAGGACGGTGTAGACGAAGGGGACATTGTGGT
GTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGATGGGGTAGT
 1 a0015c0022t0004g0103
a0015c0022t0004g0103
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.917-510_917-509ins
others(97): Show 
c.917-510_917-509insCTACCCCATCTATACCACCACCCCGTCTAC
ATAATCCACCCGTGTACACCACAATGTCCCCTTCGTCTACACCGTCCTCC
TGTCTACACCAGCACCG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312137
chrX:312143 C
C
 T
T
 72 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(69): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0003g0028
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0024
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0012c0013t0001g0134
a0013c0016t0002g0009
a0015c0022t0004g0103
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 76 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(73): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.917-516G>A
c.917-516G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312143
chrX:312144 A
A
 AGTGTAGA
others(90): Show 
AGTGTAGACAGGAGGACAGTGCAGACGAAGGGGACATTGTGGTGTACACG
GGTGGATTATGTAGACGGGGTGGTGGTATAGATGGGGTAGTGGTGCTG
 2 a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0084
a0001c0003t0002g0085
 2 HG02109.hp2
HG02451.hp1
HG02109.hp2
HG02451.hp1
 intron_variant MODIFIER c.917-518_917-517ins
others(97): Show 
c.917-518_917-517insCAGCACCACTACCCCATCTATACCACCACC
CCGTCTACATAATCCACCCGTGTACACCACAATGTCCCCTTCGTCTGCAC
TGTCCTCCTGTCTACAC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312144
chrX:312144 A
A
 G
G
 89 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(86): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0072
a0001c0003t0002g0101
a0001c0003t0003g0028
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0006t0003g0013
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0017c0028t0005g0078
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 94 HG00099.hp2
HG00280.hp2
HG00408.hp2
others(91): Show 
HG00099.hp2
HG00280.hp2
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.917-517T>C
c.917-517T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312144
chrX:312161 G
G
 A
A
 5 a0001c0001t0002g0004
a0001c0003t0003g0028
a0009c0012t0002g0041
others(2): Show 
a0001c0001t0002g0004
a0001c0003t0003g0028
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
 6 HG00423.hp1
HG00741.hp2
HG01943.hp1
others(3): Show 
HG00423.hp1
HG00741.hp2
HG01943.hp1
HG02273.hp2
NA18906.hp1
NA19081.hp2
 intron_variant MODIFIER c.917-534C>T
c.917-534C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312161
chrX:312165 C
C
 T
T
 15 a0001c0001t0002g0030
a0001c0003t0002g0101
a0001c0003t0003g0028
others(12): Show 
a0001c0001t0002g0030
a0001c0003t0002g0101
a0001c0003t0003g0028
a0002c0005t0001g0079
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0029t0005g0077
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0015c0022t0004g0103
a0019c0026t0001g0048
a0021c0027t0004g0083
a0023c0035t0004g0147
 16 HG00741.hp2
HG02055.hp1
HG02258.hp2
others(13): Show 
HG00741.hp2
HG02055.hp1
HG02258.hp2
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02970.hp2
HG03195.hp1
HG03942.hp2
NA18522.hp1
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18956.hp1
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.917-538G>A
c.917-538G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312165
chrX:312165 C
C
 TAGACGAA
others(90): Show 
TAGACGAAGGGGACATTGTGGTGTACACGGGTGGATTATGTAGACGGGGT
GGTGGTATAGATGGGGTAGTGGTGCTGGTGTAGACAGGAGGACAGTGC
 62 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(59): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0012c0013t0001g0134
a0013c0016t0002g0009
a0020c0025t0002g0051
a0022c0033t0002g0140
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 65 HG00408.hp2
HG00558.hp2
HG00639.hp2
others(62): Show 
HG00408.hp2
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02155.hp2
HG02273.hp1
HG02300.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.917-538_917-537ins
others(97): Show 
c.917-538_917-537insCACTGTCCTCCTGTCTACACCAGCACCACT
ACCCCATCTATACCACCACCCCGTCTACATAATCCACCCGTGTACACCAC
AATGTCCCCTTCGTCTA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312165
chrX:312193 G
G
 A
A
 1 a0001c0003t0003g0028
a0001c0003t0003g0028
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.917-566C>T
c.917-566C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312193
chrX:312193 G
G
 GGGTGGAT
others(90): Show 
GGGTGGATTATGTAGACGGGGTGGTGGTATAGATGGGGTAGTGGTGCTGG
TGTAGACAGGAGGACAGTGTAGACGAACGGGACATTGTGGTGTACACA
 12 a0001c0003t0001g0072
a0002c0005t0001g0079
a0005c0010t0001g0017
others(9): Show 
a0001c0003t0001g0072
a0002c0005t0001g0079
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
 13 HG00099.hp2
HG00280.hp2
HG00741.hp1
others(10): Show 
HG00099.hp2
HG00280.hp2
HG00741.hp1
HG02258.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
 intron_variant MODIFIER c.917-567_917-566ins
others(97): Show 
c.917-567_917-566insTGTGTACACCACAATGTCCCGTTCGTCTAC
ACTGTCCTCCTGTCTACACCAGCACCACTACCCCATCTATACCACCACCC
CGTCTACATAATCCACC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312193
chrX:312209 C
C
 CGGGGTGG
others(91): Show 
CGGGGTGGTGGTATAGATGGGGTAGTGGTGCTGGTGTAGACAGGAGGACA
GTGCAGACGAAGGGGACATTGTGGTGTACACGGGTGGATTATGTAGACG
 1 a0001c0001t0002g0030
a0001c0001t0002g0030
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.916+556_916+557ins
others(98): Show 
c.916+556_916+557insCGTCTACATAATCCACCCGTGTACACCACA
ATGTCCCCTTCGTCTGCACTGTCCTCCTGTCTACACCAGCACCACTACCC
CATCTATACCACCACCCC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312209
chrX:312225 C
C
 A
A
 1 a0001c0001t0002g0043
a0001c0001t0002g0043
 1 NA18957.hp1
NA18957.hp1
 intron_variant MODIFIER c.916+541G>T
c.916+541G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312225
chrX:312225 C
C
 CTGGGGCA
others(284): Show 
CTGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACGAAGGGGA
CATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGATG
GGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACGAAGGGGACAT
TGTGGTGTACACGGGTGGATTATGTAGACGGCGTGGTGGTATAGATGGGG
TAGTGGTGCTGGTGTAGACAGGAGGACGGTGCAGACGAAGGGGACATTGT
GGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGA
 1 a0002c0002t0001g0139
a0002c0002t0001g0139
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.916+540_916+541ins
others(291): Show 
c.916+540_916+541insTCTATACCACCACCCCGTCTACATAATCCA
CCCGTGTACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACA
CCAGCACCACTACCCCATCTATACCACCACGCCGTCTACATAATCCACCC
GTGTACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTG
GCACCACTGCCCCATCTATACCACCACCCCGTCTACATAATCCACCCGTG
TACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGCA
CCACTGCCCCA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312225
chrX:312225 CTGGGGCA
others(90): Show 
CTGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACAAAGGGAA
CATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGA
 C
C
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.916+444_916+540del
others(97): Show 
c.916+444_916+540delTCTATACCACCACCCCGTCTACATAATCCA
CCCGTGTACACCACAATGTTCCCTTTGTCTGCACCGTCCTCCTGTCTACA
CTGGCACCACTGCCCCA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312225
chrX:312236 G
G
 A
A
 79 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(76): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0019c0026t0001g0048
a0020c0025t0002g0051
a0022c0033t0002g0140
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 84 HG00099.hp2
HG00280.hp2
HG00408.hp2
others(81): Show 
HG00099.hp2
HG00280.hp2
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.916+530C>T
c.916+530C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312236
chrX:312236 G
G
 GTGCCAGT
others(1642): Show 
GTGCCAGTGTAGACAGGAGGACAGTGCAGACGAAGGGGACATTGTGGTGT
ACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGGTG
CCAGTGTAGACAGGAGGACGGTGCAGACGAAGGGAACATTGTGGTGTACA
CGGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCA
GTGTAGACAGGAGGACGGTGCAGACGAAGGGGACATTGTGGTGTACACGG
GTGGATTATGTAGACGGGGTGGTGGTATAGATGGGGCAGCGGTGCTGGTG
TAGACAGGAGGACGGTGCAGACGAAGGGGACATTGTGGTGTACACGGGTG
GATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAG
ACAGGAGGACAGTGTAGACGAAGGGGACATTGTGGTGTACACGGGTGGAT
TATGTAGACGGTGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACA
GGAGGACGGTGCAGACGAAGGGGACATTGTGGTGTACACGGGTGGATTAT
GTAGACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAGGA
GGACGGTGCAGACGAAGGGGACATTGTGGTGTACACGGGTGGATTATGTA
GACGGGGTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAGGAGGA
CGGTGCAGACAAAGGGAACATTGTGGTGTACACGGGTGGATTATGTAGAC
GGGGTGGTGGTATAGATGGGGTAGTGGTGCCGGTGTAGACAGGAGGACGG
TGCAGACGAAGGGGACATTGTGGTGTACACGGGTGGATTATGTAGACGGG
GTGGTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGC
AGACGAAGGGGACATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTG
GTGGTATAGCTGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGA
CGAAGGGGACATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTG
GTATAGCTGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACGA
AGGGGACATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTA
TAGCTGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACAAAGG
GAACATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAG
CTGGGGCAGTGGTGCCGGTGTAGACAGGAGGACGGTGCAGACGAAGGGGA
CATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGCTG
GGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACAAAGGGAACAT
TGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGG
CAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACGAAGGGGACATTGT
GGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGATGGGGTAG
TGGTGCTGGTGTAGACAGGAGGACAGTGTAGACGAACGGGACATTGTGGT
GTACACAGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGA
 1 a0001c0003t0003g0028
a0001c0003t0003g0028
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.916+529_916+530ins
others(1649): Show 
c.916+529_916+530insTCACTGCCCCAGCTATACCACCACCCCGTC
TACATAATCCACCTGTGTACACCACAATGTCCCGTTCGTCTACACTGTCC
TCCTGTCTACACCAGCACCACTACCCCATCTATACCACCACCCCGTCTAC
ATAATCCACCCGTGTACACCACAATGTCCCCTTCGTCTGCACCGTCCTCC
TGTCTACACTGGCACCACTGCCCCAGCTATACCACCACCCCGTCTACATA
ATCCACCCGTGTACACCACAATGTTCCCTTTGTCTGCACCGTCCTCCTGT
CTACACTGGCACCACTGCCCCAGCTATACCACCACCCCGTCTACATAATC
CACCCGTGTACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTA
CACCGGCACCACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCAC
CCGTGTACACCACAATGTTCCCTTTGTCTGCACCGTCCTCCTGTCTACAC
TGGCACCACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCACCCG
TGTACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGG
CACCACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCACCCGTGT
ACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGCAC
CACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCACCCGTGTACA
CCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGCACCAC
TGCCCCAGCTATACCACCACCCCGTCTACATAATCCACCCGTGTACACCA
CAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACCGGCACCACTAC
CCCATCTATACCACCACCCCGTCTACATAATCCACCCGTGTACACCACAA
TGTTCCCTTTGTCTGCACCGTCCTCCTGTCTACACTGGCACCACTGCCCC
AGCTATACCACCACCCCGTCTACATAATCCACCCGTGTACACCACAATGT
CCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGCACCACTGCCCCAGC
TATACCACCACCCCGTCTACATAATCCACCCGTGTACACCACAATGTCCC
CTTCGTCTGCACCGTCCTCCTGTCTACACTGGCACCACTGCCCCAGCTAT
ACCACCACACCGTCTACATAATCCACCCGTGTACACCACAATGTCCCCTT
CGTCTACACTGTCCTCCTGTCTACACTGGCACCACTGCCCCAGCTATACC
ACCACCCCGTCTACATAATCCACCCGTGTACACCACAATGTCCCCTTCGT
CTGCACCGTCCTCCTGTCTACACCAGCACCGCTGCCCCATCTATACCACC
ACCCCGTCTACATAATCCACCCGTGTACACCACAATGTCCCCTTCGTCTG
CACCGTCCTCCTGTCTACACTGGCACCACTGCCCCAGCTATACCACCACC
CCGTCTACATAATCCACCCGTGTACACCACAATGTTCCCTTCGTCTGCAC
CGTCCTCCTGTCTACACTGGCACCACTGCCCCAGCTATACCACCACCCCG
TCTACATAATCCACCCGTGTACACCACAATGTCCCCTTCGTCTGCACTGT
CCTCCTGTCTACACTGGCA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312236
chrX:312236 G
G
 GTGCCAGT
others(187): Show 
GTGCCAGTGTAGACAGGAGGACAGTGTAGACGAAGGGGACATTGTGGTGT
ACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGATGGGGTAGTGGTG
CTGGTGTAGACAGGAGGACAGTGTAGACGAACGGGACATTGTGGTGTACA
CAGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGA
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.916+529_916+530ins
others(194): Show 
c.916+529_916+530insTCACTGCCCCAGCTATACCACCACCCCGTC
TACATAATCCACCTGTGTACACCACAATGTCCCGTTCGTCTACACTGTCC
TCCTGTCTACACCAGCACCACTACCCCATCTATACCACCACCCCGTCTAC
ATAATCCACCCGTGTACACCACAATGTCCCCTTCGTCTACACTGTCCTCC
TGTCTACACTGGCA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312236
chrX:312241 A
A
 G
G
 2 a0015c0022t0004g0103
a0021c0027t0004g0083
a0015c0022t0004g0103
a0021c0027t0004g0083
 2 HG02486.hp1
HG02615.hp1
HG02486.hp1
HG02615.hp1
 intron_variant MODIFIER c.916+525T>C
c.916+525T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312241
chrX:312267 A
A
 G
G
 139 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(136): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0101
a0001c0003t0003g0061
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
a0029c0015t0001g0008
 146 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(143): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.916+499T>C
c.916+499T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312267
chrX:312271 G
G
 A
A
 1 a0017c0028t0005g0078
a0017c0028t0005g0078
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.916+495C>T
c.916+495C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312271
chrX:312273 A
A
 AACATTGT
others(284): Show 
AACATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGC
TGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTGCAGACGAAGGGGAC
ATTGTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGATGG
GGTAGTGGTGCTGGTGTAGACAGGAGGACAGTGCAGACGAAGGGGACATT
GTGGTGTACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGGC
AGTGATGCCAGTGTAGACAGGAGGACGGTGCAGACGAAGGGG
 2 a0001c0003t0003g0145
a0002c0036t0001g0071
a0001c0003t0003g0145
a0002c0036t0001g0071
 2 HG02615.hp2
HG03130.hp2
HG02615.hp2
HG03130.hp2
 intron_variant MODIFIER c.916+492_916+493ins
others(291): Show 
c.916+492_916+493insCCCCTTCGTCTGCACCGTCCTCCTGTCTAC
ACTGGCATCACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCACC
CGTGTACACCACAATGTCCCCTTCGTCTGCACTGTCCTCCTGTCTACACC
AGCACCACTACCCCATCTATACCACCACCCCGTCTACATAATCCACCCGT
GTACACCACAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGC
ACCACTGCCCCAGCTATACCACCACCCCGTCTACATAATCCACCCGTGTA
CACCACAATGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312273
chrX:312273 A
A
 G
G
 139 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(136): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0101
a0001c0003t0003g0061
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
a0029c0015t0001g0008
 146 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(143): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.916+493T>C
c.916+493T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312273
chrX:312309 G
G
 C
C
 19 a0001c0001t0002g0043
a0001c0003t0001g0053
a0001c0003t0001g0081
others(16): Show 
a0001c0001t0002g0043
a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0003g0061
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0024t0003g0106
a0002c0002t0001g0074
a0002c0002t0001g0137
a0002c0034t0003g0073
a0004c0006t0003g0013
a0004c0006t0003g0015
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0008c0009t0001g0001
a0008c0009t0001g0016
a0016c0021t0003g0082
a0018c0030t0003g0102
 20 HG00140.hp2
HG00639.hp1
HG01123.hp1
others(17): Show 
HG00140.hp2
HG00639.hp1
HG01123.hp1
HG01169.hp2
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG02109.hp1
HG02451.hp2
HG02647.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03579.hp2
HG06807.hp1
HG06807.hp2
NA18951.hp1
NA18957.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.916+457C>G
c.916+457C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312309
chrX:312309 G
G
 GGGTGGTG
others(91): Show 
GGGTGGTGGTATAGATGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGT
GCAGACGAAGGGGACATTGTGGTGTACACGGGTGGATTATGTAGACGGC
 1 a0002c0002t0001g0138
a0002c0002t0001g0138
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.916+456_916+457ins
others(98): Show 
c.916+456_916+457insGCCGTCTACATAATCCACCCGTGTACACCA
CAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGCACCACTGC
CCCATCTATACCACCACC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312309
chrX:312309 G
G
 GGTGGTGG
others(90): Show 
GGTGGTGGTATAGATGGGGCAGTGGTGCCAGTGTAGACAGGAGGACGGTG
CAGACGAAGGGGACATTGTGGTGTACACGGGTGGATTATGTAGACGGC
 33 a0001c0001t0001g0098
a0001c0003t0001g0005
a0001c0003t0001g0031
others(30): Show 
a0001c0001t0001g0098
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0105
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0141
a0002c0002t0002g0125
a0003c0038t0001g0097
a0004c0006t0001g0020
a0024c0032t0001g0108
a0029c0015t0001g0008
 34 HG00099.hp1
HG00408.hp1
HG00423.hp2
others(31): Show 
HG00099.hp1
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01123.hp2
HG01433.hp1
HG02040.hp1
HG02129.hp2
HG02155.hp1
HG03491.hp1
HG03834.hp2
NA18942.hp1
NA18942.hp2
NA18950.hp2
NA18956.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp2
NA18983.hp1
NA18999.hp2
NA19002.hp2
NA19043.hp2
NA19057.hp1
NA19058.hp2
NA19077.hp2
NA19081.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.916+456_916+457ins
others(97): Show 
c.916+456_916+457insGCCGTCTACATAATCCACCCGTGTACACCA
CAATGTCCCCTTCGTCTGCACCGTCCTCCTGTCTACACTGGCACCACTGC
CCCATCTATACCACCAC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312309
chrX:312451 T
T
 C
C
 9 a0002c0002t0001g0132
a0005c0010t0001g0017
a0005c0010t0001g0019
others(6): Show 
a0002c0002t0001g0132
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0019c0026t0001g0048
 10 HG00099.hp2
HG00280.hp2
HG02735.hp2
others(7): Show 
HG00099.hp2
HG00280.hp2
HG02735.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.916+315A>G
c.916+315A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312451
chrX:312470 A
A
 G
G
 145 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(142): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0061
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
a0029c0015t0001g0008
 152 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(149): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.916+296T>C
c.916+296T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312470
chrX:312496 C
C
 A
A
 6 a0001c0003t0001g0031
a0002c0002t0001g0068
a0002c0002t0001g0116
others(3): Show 
a0001c0003t0001g0031
a0002c0002t0001g0068
a0002c0002t0001g0116
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0122
 6 HG02155.hp1
NA18956.hp2
NA18964.hp2
others(3): Show 
HG02155.hp1
NA18956.hp2
NA18964.hp2
NA18977.hp2
NA18983.hp1
NA19081.hp1
 intron_variant MODIFIER c.916+270G>T
c.916+270G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312496
chrX:312498 C
C
 T
T
 1 a0003c0038t0001g0097
a0003c0038t0001g0097
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.916+268G>A
c.916+268G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312498
chrX:312537 C
C
 T
T
 1 a0002c0002t0001g0074
a0002c0002t0001g0074
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.916+229G>A
c.916+229G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312537
chrX:312601 T
T
 C
C
 1 a0001c0003t0001g0105
a0001c0003t0001g0105
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.916+165A>G
c.916+165A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312601
chrX:312640 G
G
 T
T
 3 a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0034t0003g0073
a0001c0003t0001g0072
a0002c0005t0001g0079
a0002c0034t0003g0073
 3 HG00741.hp1
HG02717.hp1
HG02970.hp1
HG00741.hp1
HG02717.hp1
HG02970.hp1
 intron_variant MODIFIER c.916+126C>A
c.916+126C>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312640
chrX:312662 G
G
 A
A
 1 a0001c0024t0003g0106
a0001c0024t0003g0106
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.916+104C>T
c.916+104C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312662
chrX:312703 C
C
 CG
CG
 1 a0001c0001t0002g0030
a0001c0001t0002g0030
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.916+62dupC
c.916+62dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312703
chrX:312722 G
G
 GTACCCC
GTACCCC
 83 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(80): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0002t0001g0124
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0013c0016t0002g0009
a0019c0026t0001g0048
a0020c0025t0002g0051
a0022c0033t0002g0140
a0023c0035t0004g0147
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
 88 HG00099.hp2
HG00280.hp2
HG00408.hp2
others(85): Show 
HG00099.hp2
HG00280.hp2
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02615.hp2
HG02735.hp2
HG03130.hp2
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.916+43_916+44insGG
others(4): Show 
c.916+43_916+44insGGGGTA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312722
chrX:312758 G
G
 A
A
 11 a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
others(8): Show 
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0014c0023t0001g0075
a0019c0026t0001g0048
a0026c0018t0002g0018
 12 HG02080.hp2
HG02258.hp2
HG02735.hp2
others(9): Show 
HG02080.hp2
HG02258.hp2
HG02735.hp2
HG02970.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
NA19077.hp1
NA19082.hp1
 splice_region_variant&intron_variant LOW c.916+8C>T
c.916+8C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 6/9 chrX 312758
chrX:312927 A
A
 G
G
 3 a0001c0003t0002g0085
a0015c0022t0004g0103
a0021c0027t0004g0083
a0001c0003t0002g0085
a0015c0022t0004g0103
a0021c0027t0004g0083
 3 HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
 splice_region_variant&intron_variant LOW c.758-3T>C
c.758-3T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 312927
chrX:312960 C
C
 T
T
 31 a0001c0001t0002g0047
a0002c0005t0002g0006
a0003c0004t0001g0086
others(28): Show 
a0001c0001t0002g0047
a0002c0005t0002g0006
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0013c0016t0002g0009
a0019c0026t0001g0048
a0022c0033t0002g0140
a0026c0018t0002g0018
a0027c0040t0002g0148
 33 HG00099.hp2
HG00280.hp2
HG00639.hp2
others(30): Show 
HG00099.hp2
HG00280.hp2
HG00639.hp2
HG00733.hp1
HG01167.hp1
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02080.hp1
HG02080.hp2
HG02300.hp1
HG02735.hp2
HG03942.hp2
NA18906.hp1
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA18973.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19011.hp1
NA19055.hp2
NA19057.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19082.hp1
 intron_variant MODIFIER c.758-36G>A
c.758-36G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 312960
chrX:312978 T
T
 A
A
 73 a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
others(70): Show 
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0061
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0037t0003g0133
a0003c0004t0002g0100
a0003c0038t0001g0097
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0029t0005g0077
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0014c0023t0001g0075
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0019c0026t0001g0048
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0029c0015t0001g0008
 76 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(73): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG02040.hp1
HG02055.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02451.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03195.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG03942.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp2
NA18983.hp1
NA19002.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19064.hp1
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-54A>T
c.758-54A>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 312978
chrX:312980 C
C
 T
T
 17 a0003c0004t0002g0100
a0005c0010t0001g0017
a0005c0010t0001g0019
others(14): Show 
a0003c0004t0002g0100
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0014c0023t0001g0075
a0016c0021t0003g0082
a0019c0026t0001g0048
a0026c0018t0002g0018
 18 HG00099.hp2
HG00280.hp2
HG01243.hp2
others(15): Show 
HG00099.hp2
HG00280.hp2
HG01243.hp2
HG02080.hp2
HG02258.hp2
HG02735.hp2
HG02970.hp2
HG03579.hp2
HG03942.hp2
HG06807.hp1
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
NA19064.hp1
NA19077.hp1
NA19082.hp1
 intron_variant MODIFIER c.758-56G>A
c.758-56G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 312980
chrX:312981 G
G
 A
A
 2 a0001c0003t0003g0145
a0002c0036t0001g0071
a0001c0003t0003g0145
a0002c0036t0001g0071
 2 HG02615.hp2
HG03130.hp2
HG02615.hp2
HG03130.hp2
 intron_variant MODIFIER c.758-57C>T
c.758-57C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 312981
chrX:312984 C
C
 T
T
 64 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(61): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0002c0002t0001g0114
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0013c0016t0002g0009
a0020c0025t0002g0051
a0022c0033t0002g0140
a0027c0040t0002g0148
a0028c0017t0002g0010
 68 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(65): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02080.hp1
HG02155.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18906.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19070.hp1
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.758-60G>A
c.758-60G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 312984
chrX:312998 G
G
 C
C
 20 a0001c0003t0003g0028
a0002c0005t0001g0079
a0002c0005t0004g0076
others(17): Show 
a0001c0003t0003g0028
a0002c0005t0001g0079
a0002c0005t0004g0076
a0003c0004t0002g0100
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0019t0001g0022
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0014c0023t0001g0075
a0016c0021t0003g0082
a0017c0028t0005g0078
a0019c0026t0001g0048
a0026c0018t0002g0018
 21 HG00099.hp2
HG00280.hp2
HG00741.hp2
others(18): Show 
HG00099.hp2
HG00280.hp2
HG00741.hp2
HG01243.hp2
HG02258.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG06807.hp1
NA18906.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
NA19064.hp1
NA19077.hp1
NA19082.hp1
 intron_variant MODIFIER c.758-74C>G
c.758-74C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 312998
chrX:313036 TG
TG
 T
T
 1 a0003c0038t0001g0097
a0003c0038t0001g0097
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.758-113delC
c.758-113delC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313036
chrX:313104 G
G
 C
C
 56 a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
others(53): Show 
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0001g0105
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0061
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0003c0038t0001g0097
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0005c0010t0001g0024
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0029t0005g0077
a0016c0021t0003g0082
a0018c0030t0003g0102
a0024c0032t0001g0108
a0025c0020t0002g0026
a0029c0015t0001g0008
 58 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(55): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00642.hp1
HG00733.hp2
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG02040.hp1
HG02055.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02451.hp2
HG02615.hp2
HG02647.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03130.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18942.hp1
NA18942.hp2
NA18951.hp1
NA18956.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp2
NA18983.hp1
NA19002.hp2
NA19043.hp2
NA19057.hp1
NA19058.hp2
NA19077.hp2
NA19081.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.758-180C>G
c.758-180C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313104
chrX:313105 G
G
 A
A
 1 a0003c0038t0001g0097
a0003c0038t0001g0097
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.758-181C>T
c.758-181C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313105
chrX:313117 C
C
 G
G
 2 a0002c0005t0001g0079
a0017c0028t0005g0078
a0002c0005t0001g0079
a0017c0028t0005g0078
 2 HG02717.hp1
HG03195.hp2
HG02717.hp1
HG03195.hp2
 intron_variant MODIFIER c.758-193G>C
c.758-193G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313117
chrX:313149 C
C
 T
T
 20 a0001c0001t0001g0098
a0001c0001t0002g0004
a0001c0003t0001g0105
others(17): Show 
a0001c0001t0001g0098
a0001c0001t0002g0004
a0001c0003t0001g0105
a0001c0003t0002g0085
a0002c0002t0001g0117
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0009c0012t0002g0041
a0009c0012t0002g0042
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0014c0023t0001g0075
a0015c0022t0004g0103
a0017c0028t0005g0078
a0019c0026t0001g0048
a0021c0027t0004g0083
a0023c0035t0004g0147
a0026c0018t0002g0018
 22 HG00423.hp1
HG01943.hp1
HG02258.hp2
others(19): Show 
HG00423.hp1
HG01943.hp1
HG02258.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02735.hp2
HG02970.hp2
HG03195.hp1
HG03195.hp2
HG03942.hp2
NA18941.hp1
NA18949.hp2
NA18950.hp2
NA18957.hp2
NA18999.hp2
NA19043.hp2
NA19057.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
 intron_variant MODIFIER c.758-225G>A
c.758-225G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313149
chrX:313161 G
G
 A
A
 1 a0001c0003t0001g0081
a0001c0003t0001g0081
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.758-237C>T
c.758-237C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313161
chrX:313196 G
G
 A
A
 2 a0012c0013t0001g0134
a0026c0018t0002g0018
a0012c0013t0001g0134
a0026c0018t0002g0018
 2 NA19077.hp1
NA19082.hp1
NA19077.hp1
NA19082.hp1
 intron_variant MODIFIER c.758-272C>T
c.758-272C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313196
chrX:313209 C
C
 CG
CG
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.758-286dupC
c.758-286dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313209
chrX:313221 C
C
 G
G
 1 a0002c0005t0002g0123
a0002c0005t0002g0123
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.758-297G>C
c.758-297G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313221
chrX:313238 CG
CG
 C
C
 1 a0022c0033t0002g0140
a0022c0033t0002g0140
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.758-315delC
c.758-315delC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313238
chrX:313249 G
G
 A
A
 1 a0002c0005t0001g0079
a0002c0005t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.758-325C>T
c.758-325C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313249
chrX:313251 G
G
 GC
GC
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.758-328dupG
c.758-328dupG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313251
chrX:313361 C
C
 T
T
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.758-437G>A
c.758-437G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313361
chrX:313389 C
C
 G
G
 18 a0002c0005t0002g0006
a0003c0004t0001g0086
a0003c0004t0001g0089
others(15): Show 
a0002c0005t0002g0006
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0013c0016t0002g0009
a0022c0033t0002g0140
a0027c0040t0002g0148
 19 HG00639.hp2
HG01167.hp1
HG01361.hp1
others(16): Show 
HG00639.hp2
HG01167.hp1
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02080.hp1
HG02300.hp1
NA18973.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19011.hp1
NA19055.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp1
NA19078.hp2
 intron_variant MODIFIER c.758-465G>C
c.758-465G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313389
chrX:313482 T
T
 TG
TG
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.758-559dupC
c.758-559dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313482
chrX:313539 A
A
 G
G
 70 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(67): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0081
a0002c0002t0001g0114
a0002c0002t0001g0117
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0003c0004t0001g0091
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0039t0002g0094
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0031t0005g0104
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0019c0026t0001g0048
a0020c0025t0002g0051
a0022c0033t0002g0140
a0027c0040t0002g0148
a0028c0017t0002g0010
a0029c0015t0001g0008
 74 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(71): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01175.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp2
HG02027.hp2
HG02129.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02970.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18964.hp1
NA18973.hp1
NA18973.hp2
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.757+611T>C
c.757+611T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313539
chrX:313563 C
C
 T
T
 2 a0002c0005t0004g0076
a0010c0031t0005g0104
a0002c0005t0004g0076
a0010c0031t0005g0104
 2 NA18906.hp1
NA18906.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.757+587G>A
c.757+587G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313563
chrX:313630 C
C
 T
T
 1 a0001c0001t0002g0062
a0001c0001t0002g0062
 1 NA18991.hp1
NA18991.hp1
 intron_variant MODIFIER c.757+520G>A
c.757+520G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313630
chrX:313646 T
T
 C
C
 138 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(135): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0061
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0034t0003g0073
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0029t0005g0077
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
a0029c0015t0001g0008
 145 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(142): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+504A>G
c.757+504A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313646
chrX:313647 G
G
 A
A
 4 a0001c0003t0002g0085
a0015c0022t0004g0103
a0017c0028t0005g0078
others(1): Show 
a0001c0003t0002g0085
a0015c0022t0004g0103
a0017c0028t0005g0078
a0021c0027t0004g0083
 4 HG02451.hp1
HG02486.hp1
HG02615.hp1
others(1): Show 
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG03195.hp2
 intron_variant MODIFIER c.757+503C>T
c.757+503C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313647
chrX:313665 A
A
 G
G
 2 a0002c0005t0004g0076
a0010c0031t0005g0104
a0002c0005t0004g0076
a0010c0031t0005g0104
 2 NA18906.hp1
NA18906.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.757+485T>C
c.757+485T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313665
chrX:313674 AG
AG
 A
A
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.757+475delC
c.757+475delC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313674
chrX:313696 G
G
 A
A
 4 a0001c0003t0002g0085
a0015c0022t0004g0103
a0017c0028t0005g0078
others(1): Show 
a0001c0003t0002g0085
a0015c0022t0004g0103
a0017c0028t0005g0078
a0021c0027t0004g0083
 4 HG02451.hp1
HG02486.hp1
HG02615.hp1
others(1): Show 
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG03195.hp2
 intron_variant MODIFIER c.757+454C>T
c.757+454C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313696
chrX:313732 C
C
 T
T
 49 a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0081
others(46): Show 
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0003g0061
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0002g0130
a0002c0034t0003g0073
a0003c0038t0001g0097
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0008c0009t0001g0001
a0016c0021t0003g0082
a0018c0030t0003g0102
a0024c0032t0001g0108
a0025c0020t0002g0026
a0029c0015t0001g0008
 50 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(47): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00642.hp1
HG00733.hp2
HG01071.hp1
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG02040.hp1
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02451.hp2
HG02647.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18942.hp1
NA18942.hp2
NA18950.hp2
NA18956.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp2
NA18992.hp1
NA19002.hp2
NA19043.hp2
NA19057.hp1
NA19058.hp2
NA19077.hp2
NA19081.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+418G>A
c.757+418G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313732
chrX:313737 C
C
 G
G
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.757+413G>C
c.757+413G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313737
chrX:313775 G
G
 A
A
 1 a0002c0002t0001g0129
a0002c0002t0001g0129
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.757+375C>T
c.757+375C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313775
chrX:313811 T
T
 C
C
 1 a0005c0010t0001g0017
a0005c0010t0001g0017
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.757+339A>G
c.757+339A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313811
chrX:313903 GCAAAACC
others(2): Show 
GCAAAACCTC
 G
G
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.757+238_757+246del
others(9): Show 
c.757+238_757+246delGAGGTTTTG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313903
chrX:313925 G
G
 C
C
 74 a0001c0001t0001g0045
a0001c0001t0002g0040
a0001c0003t0001g0046
others(71): Show 
a0001c0001t0001g0045
a0001c0001t0002g0040
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0061
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0037t0003g0133
a0003c0038t0001g0097
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0021c0027t0004g0083
a0023c0035t0004g0147
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0029c0015t0001g0008
 76 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(73): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00741.hp2
HG01071.hp1
HG01123.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG02040.hp1
HG02055.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp2
NA18992.hp1
NA18993.hp1
NA19002.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+225C>G
c.757+225C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313925
chrX:313935 T
T
 C
C
 6 a0001c0003t0002g0085
a0001c0003t0003g0028
a0010c0029t0005g0077
others(3): Show 
a0001c0003t0002g0085
a0001c0003t0003g0028
a0010c0029t0005g0077
a0015c0022t0004g0103
a0017c0028t0005g0078
a0021c0027t0004g0083
 6 HG00741.hp2
HG02451.hp1
HG02486.hp1
others(3): Show 
HG00741.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG03195.hp2
NA18522.hp1
 intron_variant MODIFIER c.757+215A>G
c.757+215A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313935
chrX:313938 C
C
 A
A
 12 a0002c0005t0001g0079
a0002c0037t0003g0133
a0005c0010t0001g0017
others(9): Show 
a0002c0005t0001g0079
a0002c0037t0003g0133
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0011c0014t0001g0007
a0012c0013t0001g0134
a0026c0018t0002g0018
 13 HG00099.hp2
HG00280.hp2
HG00735.hp2
others(10): Show 
HG00099.hp2
HG00280.hp2
HG00735.hp2
HG02080.hp2
HG02717.hp1
HG02735.hp2
NA18941.hp1
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA19057.hp2
NA19077.hp1
NA19082.hp1
 intron_variant MODIFIER c.757+212G>T
c.757+212G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313938
chrX:313951 C
C
 CAGACGGA
others(73): Show 
CAGACGGAGCCCCCAGCCAGCCCCCACCCTGTTGGAATCTTCCAGGGCTG
AGGGTCTCCTATGTCCTCAAATGCTACCAGG
 39 a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0081
others(36): Show 
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0081
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0034t0003g0073
a0003c0038t0001g0097
a0004c0006t0001g0020
a0004c0006t0003g0013
a0008c0009t0001g0016
a0016c0021t0003g0082
a0018c0030t0003g0102
a0024c0032t0001g0108
a0025c0020t0002g0026
 39 HG00099.hp1
HG00408.hp1
HG00423.hp2
others(36): Show 
HG00099.hp1
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00642.hp1
HG00733.hp2
HG01071.hp1
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG02040.hp1
HG02155.hp1
HG02647.hp2
HG02970.hp1
HG03491.hp1
HG03654.hp2
HG03834.hp2
HG06807.hp2
NA18942.hp1
NA18942.hp2
NA18950.hp2
NA18956.hp2
NA18961.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp2
NA18992.hp1
NA19002.hp2
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19077.hp2
NA19081.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.757+119_757+198dup
others(80): Show 
c.757+119_757+198dupCCTGGTAGCATTTGAGGACATAGGAGACCC
TCAGCCCTGGAAGATTCCAACAGGGTGGGGGCTGGCTGGGGGCTCCGTCT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313951
chrX:313951 C
C
 CAGACGGA
others(153): Show 
CAGACGGAGCCCCCAGCCAGCCCCCACCCTGTTGGAATCTTCCAGGGCTG
AGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGACCCCAGCCGG
ACCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA
ATGCTACCAGG
 1 a0002c0002t0001g0074
a0002c0002t0001g0074
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.757+198_757+199ins
others(160): Show 
c.757+198_757+199insCCTGGTAGCATTTGAGGACATAGGAGACCC
TCAGCCCTGGAAGATTCCAACAGGGTGGGGTCCGGCTGGGGTCTCCGTCT
CCTGGTAGCATTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAA
CAGGGTGGGGGCTGGCTGGGGGCTCCGTCT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313951
chrX:313951 C
C
 CAGACGGA
others(153): Show 
CAGACGGAGCCCCCAGCCAGCCCCCACCCTGTTGGAATCTTCCAGGGCTG
AGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGCCCCCAGCCAG
CCCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA
ATGCTACCAGG
 2 a0002c0002t0001g0110
a0008c0009t0001g0001
a0002c0002t0001g0110
a0008c0009t0001g0001
 3 HG01433.hp1
HG02109.hp1
HG02451.hp2
HG01433.hp1
HG02109.hp1
HG02451.hp2
 intron_variant MODIFIER c.757+198_757+199ins
others(160): Show 
c.757+198_757+199insCCTGGTAGCATTTGAGGACATAGGAGACCC
TCAGCCCTGGAAGATTCCAACAGGGTGGGGGCTGGCTGGGGGCTCCGTCT
CCTGGTAGCATTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAA
CAGGGTGGGGGCTGGCTGGGGGCTCCGTCT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313951
chrX:313971 C
C
 CCCCCACC
others(73): Show 
CCCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA
ATGCTACCAGGAGACGGAGACCCCAGCCGGA
 4 a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
others(1): Show 
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0013c0016t0002g0009
 4 HG02965.hp1
HG03579.hp2
HG06807.hp1
others(1): Show 
HG02965.hp1
HG03579.hp2
HG06807.hp1
NA19078.hp2
 intron_variant MODIFIER c.757+178_757+179ins
others(80): Show 
c.757+178_757+179insTCCGGCTGGGGTCTCCGTCTCCTGGTAGCA
TTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAACAGGGTGGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313971
chrX:313971 C
C
 CCCCCACC
others(553): Show 
CCCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA
ATGCTACCAGGAGACGGAGACCCCAGCCGGACCCCACCCTGTTGGAATCT
TCCAGGGCTGAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGA
CCCCAGCCGGACCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCT
ATGTCCTCAAATGCTACCAGGAGACGGAGACCCCAGCCGGACCCCACCCT
GTTGGAATCTTCCAGGGCTGAGAAGGGTCTCCTATCTCCTCAAATGCTAC
CAGACGGAGCCCCCAGCCAGCCCCCACCCTGTTGGAATCTTCCAGGGCTG
AGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGACCCCAGCTGG
ACCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA
ATGCTACCAGGAGACGGAGACCCCAGCTGGACCCCACCCTGTTGGAATCT
TCCAGGGCTGAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGA
CCCCAGCTGGA
 1 a0001c0003t0002g0084
a0001c0003t0002g0084
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.757+178_757+179ins
others(560): Show 
c.757+178_757+179insTCCAGCTGGGGTCTCCGTCTCCTGGTAGCA
TTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAACAGGGTGGGG
TCCAGCTGGGGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCC
TCAGCCCTGGAAGATTCCAACAGGGTGGGGTCCAGCTGGGGTCTCCGTCT
CCTGGTAGCATTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAA
CAGGGTGGGGGCTGGCTGGGGGCTCCGTCTGGTAGCATTTGAGGAGATAG
GAGACCCTTCTCAGCCCTGGAAGATTCCAACAGGGTGGGGTCCGGCTGGG
GTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCCTCAGCCCTGG
AAGATTCCAACAGGGTGGGGTCCGGCTGGGGTCTCCGTCTCCTGGTAGCA
TTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAACAGGGTGGGG
TCCGGCTGGGGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCC
TCAGCCCTGGAAGATTCCAACAGGGTGGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313971
chrX:313971 C
C
 CCCCCACC
others(568): Show 
CCCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA
ATGCTACCAGGAGACGGAGACCCCAGCCGGACCCCACCCTGTTGGAATCT
TCCAGGGCTGAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGA
CCCCAGCTGGACCCCACCCTGTTGGAATCTTCCAGGGCTGAGAAGGGTCT
CCTATGTCCTCAAATGCTACCAGGAGACGGAGACCCCAGCCGGACCCCAC
CCTGTTGGAATCTTCCAGGGCTGAGAAGGGTCTCCTATGTCCTCAAATGC
TACCAGGAGACGGAGACCCCAGCTGGACCCCACCCTGTTGGAATCTTCCA
GGGCTGAGAAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGAC
CCCAGCCGGACCCCACCCTGTTGGAATCTTCCAGGGCTGAGAAGGGTCTC
CTATGTCCTCAAATGCTACCAGGAGACGGAGACCCCAGCTGGACCCCACC
CTGTTGGAATCTTCCAGGGCTGAGAAGGGTCTCCTATGTCCTCAAATGCT
ACCAGGAGACGGAGACCCCAGCTGGA
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.757+178_757+179ins
others(575): Show 
c.757+178_757+179insTCCAGCTGGGGTCTCCGTCTCCTGGTAGCA
TTTGAGGACATAGGAGACCCTTCTCAGCCCTGGAAGATTCCAACAGGGTG
GGGTCCAGCTGGGGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGA
CCCTTCTCAGCCCTGGAAGATTCCAACAGGGTGGGGTCCGGCTGGGGTCT
CCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCCTTCTCAGCCCTGGA
AGATTCCAACAGGGTGGGGTCCAGCTGGGGTCTCCGTCTCCTGGTAGCAT
TTGAGGACATAGGAGACCCTTCTCAGCCCTGGAAGATTCCAACAGGGTGG
GGTCCGGCTGGGGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGAC
CCTTCTCAGCCCTGGAAGATTCCAACAGGGTGGGGTCCAGCTGGGGTCTC
CGTCTCCTGGTAGCATTTGAGGACATAGGAGACCCTCAGCCCTGGAAGAT
TCCAACAGGGTGGGGTCCGGCTGGGGTCTCCGTCTCCTGGTAGCATTTGA
GGACATAGGAGACCCTCAGCCCTGGAAGATTCCAACAGGGTGGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313971
chrX:313971 C
C
 CCCCCACC
others(402): Show 
CCCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA
ATGCTACCAGGAGACGGAGACCCCAGCCGGACCCCACCCTGTTGGAATCT
TCCAGGGCTGAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGA
CCCCAGCTGGACCCCACCCTGTTGGAATCTTCCAGGGCTGAGAAGGGTCT
CCTATGTCCTCAAATGCTACCAGGAGACGGAGACCCCAGCCGGACCCCAC
CCTGTTGGAATCTTCCAGGGCTGAGAAGGGTCTCCTATGTCCTCAAATGC
TACCAGGAGACGGAGACCCCAGCTGGACCCCACCCTGTTGGAATCTTCCA
GGGCTGAGAAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGAC
CCCAGCTGGA
 1 a0010c0031t0005g0104
a0010c0031t0005g0104
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.757+178_757+179ins
others(409): Show 
c.757+178_757+179insTCCAGCTGGGGTCTCCGTCTCCTGGTAGCA
TTTGAGGACATAGGAGACCCTTCTCAGCCCTGGAAGATTCCAACAGGGTG
GGGTCCAGCTGGGGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGA
CCCTTCTCAGCCCTGGAAGATTCCAACAGGGTGGGGTCCGGCTGGGGTCT
CCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCCTTCTCAGCCCTGGA
AGATTCCAACAGGGTGGGGTCCAGCTGGGGTCTCCGTCTCCTGGTAGCAT
TTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAACAGGGTGGGGT
CCGGCTGGGGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCCT
CAGCCCTGGAAGATTCCAACAGGGTGGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313971
chrX:313971 C
C
 CCCCCACC
others(73): Show 
CCCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA
ATGCTACCAGGAGACGGAGACCCCAGCTGGA
 5 a0001c0003t0002g0085
a0010c0029t0005g0077
a0015c0022t0004g0103
others(2): Show 
a0001c0003t0002g0085
a0010c0029t0005g0077
a0015c0022t0004g0103
a0017c0028t0005g0078
a0021c0027t0004g0083
 5 HG02451.hp1
HG02486.hp1
HG02615.hp1
others(2): Show 
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG03195.hp2
NA18522.hp1
 intron_variant MODIFIER c.757+99_757+178dupT
others(79): Show 
c.757+99_757+178dupTCCAGCTGGGGTCTCCGTCTCCTGGTAGCAT
TTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAACAGGGTGGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313971
chrX:313971 C
C
 CCCCCACC
others(153): Show 
CCCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA
ATGCTACCAGGAGACGGAGACCCCAGCTGGACCCCACCCTGTTGGAATCT
TCCAGGGCTGAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGA
CCCCAGCTGGA
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.757+178_757+179ins
others(160): Show 
c.757+178_757+179insTCCAGCTGGGGTCTCCGTCTCCTGGTAGCA
TTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAACAGGGTGGGG
TCCAGCTGGGGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCC
TCAGCCCTGGAAGATTCCAACAGGGTGGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313971
chrX:313971 C
C
 CCCCCACC
others(233): Show 
CCCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA
ATGCTACCAGGAGACGGAGACCCCAGCTGGACCCCACCCTGTTGGAATCT
TCCAGGGCTGAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGA
CCCCAGCTGGACCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCT
ATGTCCTCAAATGCTACCAGGAGACGGAGACCCCAGCTGGA
 1 a0001c0003t0001g0072
a0001c0003t0001g0072
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.757+178_757+179ins
others(240): Show 
c.757+178_757+179insTCCAGCTGGGGTCTCCGTCTCCTGGTAGCA
TTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAACAGGGTGGGG
TCCAGCTGGGGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCC
TCAGCCCTGGAAGATTCCAACAGGGTGGGGTCCAGCTGGGGTCTCCGTCT
CCTGGTAGCATTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAA
CAGGGTGGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313971
chrX:313971 C
C
 CCCCCACC
others(313): Show 
CCCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAA
ATGCTACCAGGAGACGGAGCCCCCAGCCAGCCCCCACCCTGTTGGAATCT
TCCAGGGCTGAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGA
CCCCAGCTGGACCCCACCCTGTTGGAATCTTCCAGGGCTGAGGGTCTCCT
ATGTCCTCAAATGCTACCAGGAGACGGAGACCCCAGCTGGACCCCACCCT
GTTGGAATCTTCCAGGGCTGAGGGTCTCCTATGTCCTCAAATGCTACCAG
GAGACGGAGACCCCAGCTGGA
 1 a0001c0003t0001g0105
a0001c0003t0001g0105
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.757+178_757+179ins
others(320): Show 
c.757+178_757+179insTCCAGCTGGGGTCTCCGTCTCCTGGTAGCA
TTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAACAGGGTGGGG
TCCAGCTGGGGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCC
TCAGCCCTGGAAGATTCCAACAGGGTGGGGTCCAGCTGGGGTCTCCGTCT
CCTGGTAGCATTTGAGGACATAGGAGACCCTCAGCCCTGGAAGATTCCAA
CAGGGTGGGGGCTGGCTGGGGGCTCCGTCTCCTGGTAGCATTTGAGGACA
TAGGAGACCCTCAGCCCTGGAAGATTCCAACAGGGTGGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 313971
chrX:314048 T
T
 C
C
 1 a0022c0033t0002g0140
a0022c0033t0002g0140
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.757+102A>G
c.757+102A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 314048
chrX:314075 G
G
 GGGCTGAG
others(72): Show 
GGGCTGAGGGTCTCCTATGTCCTCAAATGCTACCAGGAGACGGAGACCCC
AGCTGGACCCCACCCTGTTGGAATCTTCCA
 1 a0022c0033t0002g0140
a0022c0033t0002g0140
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.757+74_757+75insTG
others(77): Show 
c.757+74_757+75insTGGAAGATTCCAACAGGGTGGGGTCCAGCTGG
GGTCTCCGTCTCCTGGTAGCATTTGAGGACATAGGAGACCCTCAGCC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 314075
chrX:314113 G
G
 A
A
 13 a0001c0003t0003g0061
a0002c0002t0001g0135
a0002c0005t0002g0006
others(10): Show 
a0001c0003t0003g0061
a0002c0002t0001g0135
a0002c0005t0002g0006
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0100
a0003c0039t0002g0094
 14 HG00639.hp2
HG01167.hp1
HG01361.hp1
others(11): Show 
HG00639.hp2
HG01167.hp1
HG01361.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02300.hp1
HG03017.hp1
NA18991.hp2
NA18992.hp2
NA19055.hp2
NA19064.hp1
NA19070.hp1
 intron_variant MODIFIER c.757+37C>T
c.757+37C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 314113
chrX:314121 T
T
 C
C
 14 a0001c0003t0003g0061
a0002c0002t0001g0135
a0002c0005t0002g0006
others(11): Show 
a0001c0003t0003g0061
a0002c0002t0001g0135
a0002c0005t0002g0006
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0100
a0003c0039t0002g0094
 15 HG00639.hp2
HG01167.hp1
HG01361.hp1
others(12): Show 
HG00639.hp2
HG01167.hp1
HG01361.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02300.hp1
HG03017.hp1
NA18991.hp2
NA18992.hp2
NA19011.hp1
NA19055.hp2
NA19064.hp1
NA19070.hp1
 intron_variant MODIFIER c.757+29A>G
c.757+29A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 314121
chrX:314138 G
G
 C
C
 3 a0001c0003t0002g0085
a0015c0022t0004g0103
a0021c0027t0004g0083
a0001c0003t0002g0085
a0015c0022t0004g0103
a0021c0027t0004g0083
 3 HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
 intron_variant MODIFIER c.757+12C>G
c.757+12C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 5/9 chrX 314138
chrX:314292 A
A
 AG
AG
 1 a0001c0003t0002g0101
a0001c0003t0002g0101
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.690-76dupC
c.690-76dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314292
chrX:314342 G
G
 GC
GC
 4 a0001c0001t0002g0065
a0002c0002t0001g0110
a0003c0004t0001g0092
others(1): Show 
a0001c0001t0002g0065
a0002c0002t0001g0110
a0003c0004t0001g0092
a0004c0007t0002g0025
 4 HG01433.hp1
HG03831.hp1
NA19000.hp1
others(1): Show 
HG01433.hp1
HG03831.hp1
NA19000.hp1
NA19070.hp1
 intron_variant MODIFIER c.690-126dupG
c.690-126dupG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314342
chrX:314353 C
C
 T
T
 1 a0001c0001t0001g0002
a0001c0001t0001g0002
 2 HG01070.hp2
HG01109.hp2
HG01070.hp2
HG01109.hp2
 intron_variant MODIFIER c.690-136G>A
c.690-136G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314353
chrX:314364 C
C
 G
G
 88 a0001c0001t0002g0047
a0001c0001t0002g0062
a0001c0003t0001g0046
others(85): Show 
a0001c0001t0002g0047
a0001c0001t0002g0062
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0130
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0010c0029t0005g0077
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 91 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(88): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00558.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18964.hp1
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.690-147G>C
c.690-147G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314364
chrX:314381 G
G
 A
A
 1 a0002c0002t0002g0125
a0002c0002t0002g0125
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.690-164C>T
c.690-164C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314381
chrX:314409 T
T
 TG
TG
 1 a0001c0001t0002g0030
a0001c0001t0002g0030
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.690-193dupC
c.690-193dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314409
chrX:314458 C
C
 A
A
 51 a0001c0001t0001g0045
a0001c0003t0001g0046
a0001c0003t0001g0049
others(48): Show 
a0001c0001t0001g0045
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0003g0107
a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0034t0003g0073
a0003c0004t0002g0088
a0003c0004t0002g0100
a0003c0038t0001g0097
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0008c0009t0001g0001
a0008c0009t0001g0016
a0013c0016t0002g0009
a0016c0021t0003g0082
a0018c0030t0003g0102
a0022c0033t0002g0140
a0024c0032t0001g0108
a0025c0020t0002g0026
 52 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(49): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG02040.hp1
HG02109.hp1
HG02155.hp1
HG02273.hp1
HG02451.hp2
HG02970.hp1
HG03491.hp1
HG03654.hp2
HG03834.hp2
HG06807.hp2
NA18942.hp1
NA18942.hp2
NA18956.hp2
NA18961.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18992.hp1
NA19002.hp2
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19064.hp1
NA19077.hp2
NA19078.hp2
NA19081.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.690-241G>T
c.690-241G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314458
chrX:314476 C
C
 CT
CT
 4 a0001c0001t0002g0032
a0001c0001t0002g0054
a0001c0003t0002g0084
others(1): Show 
a0001c0001t0002g0032
a0001c0001t0002g0054
a0001c0003t0002g0084
a0027c0040t0002g0148
 4 HG01361.hp2
HG02109.hp2
HG04228.hp1
others(1): Show 
HG01361.hp2
HG02109.hp2
HG04228.hp1
NA18984.hp1
 intron_variant MODIFIER c.690-260dupA
c.690-260dupA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314476
chrX:314491 T
T
 C
C
 4 a0001c0003t0002g0085
a0014c0023t0001g0075
a0015c0022t0004g0103
others(1): Show 
a0001c0003t0002g0085
a0014c0023t0001g0075
a0015c0022t0004g0103
a0021c0027t0004g0083
 4 HG02451.hp1
HG02486.hp1
HG02615.hp1
others(1): Show 
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02970.hp2
 intron_variant MODIFIER c.690-274A>G
c.690-274A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314491
chrX:314491 T
T
 G
G
 2 a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0002g0101
a0001c0003t0003g0028
 2 HG00741.hp2
HG02055.hp1
HG00741.hp2
HG02055.hp1
 intron_variant MODIFIER c.690-274A>C
c.690-274A>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314491
chrX:314510 T
T
 C
C
 2 a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0002g0101
a0001c0003t0003g0028
 2 HG00741.hp2
HG02055.hp1
HG00741.hp2
HG02055.hp1
 intron_variant MODIFIER c.690-293A>G
c.690-293A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314510
chrX:314512 A
A
 C
C
 47 a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0072
others(44): Show 
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0003g0107
a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0002g0125
a0002c0005t0002g0121
a0002c0005t0002g0130
a0002c0034t0003g0073
a0003c0038t0001g0097
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0008c0009t0001g0016
a0013c0016t0002g0009
a0016c0021t0003g0082
a0018c0030t0003g0102
a0022c0033t0002g0140
a0024c0032t0001g0108
a0025c0020t0002g0026
 47 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(44): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG02040.hp1
HG02129.hp2
HG02155.hp1
HG02273.hp1
HG02970.hp1
HG03491.hp1
HG03654.hp2
HG03834.hp2
HG06807.hp2
NA18942.hp1
NA18942.hp2
NA18956.hp2
NA18961.hp1
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18992.hp1
NA19002.hp2
NA19043.hp2
NA19057.hp1
NA19058.hp2
NA19077.hp2
NA19078.hp2
NA19081.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.690-295T>G
c.690-295T>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314512
chrX:314518 G
G
 C
C
 2 a0001c0003t0002g0084
a0008c0009t0001g0001
a0001c0003t0002g0084
a0008c0009t0001g0001
 3 HG02109.hp1
HG02109.hp2
HG02451.hp2
HG02109.hp1
HG02109.hp2
HG02451.hp2
 intron_variant MODIFIER c.690-301C>G
c.690-301C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314518
chrX:314533 C
C
 T
T
 5 a0001c0003t0003g0145
a0002c0005t0004g0076
a0006c0011t0003g0142
others(2): Show 
a0001c0003t0003g0145
a0002c0005t0004g0076
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
 5 HG02615.hp2
HG02965.hp1
HG03579.hp2
others(2): Show 
HG02615.hp2
HG02965.hp1
HG03579.hp2
HG06807.hp1
NA18906.hp2
 intron_variant MODIFIER c.690-316G>A
c.690-316G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314533
chrX:314535 T
T
 C
C
 92 a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0072
others(89): Show 
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0018c0030t0003g0102
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
 95 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(92): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.690-318A>G
c.690-318A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314535
chrX:314597 T
T
 C
C
 81 a0001c0001t0002g0054
a0001c0003t0001g0046
a0001c0003t0001g0049
others(78): Show 
a0001c0001t0002g0054
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0004g0076
a0002c0034t0003g0073
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0008c0009t0001g0016
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0021c0027t0004g0083
a0022c0033t0002g0140
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
 83 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(80): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02273.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03195.hp2
HG03491.hp1
HG03579.hp2
HG03834.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp2
NA19081.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.689+293A>G
c.689+293A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314597
chrX:314610 T
T
 C
C
 2 a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0002g0101
a0001c0003t0003g0028
 2 HG00741.hp2
HG02055.hp1
HG00741.hp2
HG02055.hp1
 intron_variant MODIFIER c.689+280A>G
c.689+280A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314610
chrX:314612 T
T
 A
A
 80 a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0072
others(77): Show 
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0034t0003g0073
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0029t0005g0077
a0011c0014t0001g0007
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0021c0027t0004g0083
a0022c0033t0002g0140
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
 83 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(80): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02055.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02273.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp2
NA19081.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.689+278A>T
c.689+278A>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314612
chrX:314618 G
G
 A
A
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.689+272C>T
c.689+272C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314618
chrX:314622 G
G
 A
A
 83 a0001c0003t0001g0049
a0001c0003t0001g0072
a0001c0003t0001g0081
others(80): Show 
a0001c0003t0001g0049
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0034t0003g0073
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 86 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(83): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02055.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02273.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03579.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18942.hp1
NA18949.hp2
NA18950.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.689+268C>T
c.689+268C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314622
chrX:314623 C
C
 A
A
 83 a0001c0003t0001g0049
a0001c0003t0001g0072
a0001c0003t0001g0081
others(80): Show 
a0001c0003t0001g0049
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0034t0003g0073
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 86 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(83): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02055.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02273.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03579.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18942.hp1
NA18949.hp2
NA18950.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.689+267G>T
c.689+267G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314623
chrX:314641 T
T
 A
A
 1 a0001c0024t0003g0106
a0001c0024t0003g0106
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.689+249A>T
c.689+249A>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314641
chrX:314652 A
A
 G
G
 82 a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0081
others(79): Show 
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0034t0003g0073
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0029t0005g0077
a0011c0014t0001g0007
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0021c0027t0004g0083
a0022c0033t0002g0140
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 85 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(82): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02273.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03195.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp2
NA19081.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.689+238T>C
c.689+238T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314652
chrX:314662 C
C
 G
G
 92 a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0081
others(89): Show 
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0029t0005g0077
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 95 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(92): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18964.hp1
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.689+228G>C
c.689+228G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314662
chrX:314677 C
C
 T
T
 1 a0008c0009t0001g0001
a0008c0009t0001g0001
 2 HG02109.hp1
HG02451.hp2
HG02109.hp1
HG02451.hp2
 intron_variant MODIFIER c.689+213G>A
c.689+213G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314677
chrX:314680 G
G
 A
A
 1 a0008c0009t0001g0001
a0008c0009t0001g0001
 2 HG02109.hp1
HG02451.hp2
HG02109.hp1
HG02451.hp2
 intron_variant MODIFIER c.689+210C>T
c.689+210C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314680
chrX:314683 G
G
 A
A
 1 a0008c0009t0001g0001
a0008c0009t0001g0001
 2 HG02109.hp1
HG02451.hp2
HG02109.hp1
HG02451.hp2
 intron_variant MODIFIER c.689+207C>T
c.689+207C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314683
chrX:314697 C
C
 T
T
 5 a0001c0003t0002g0085
a0001c0024t0003g0106
a0010c0031t0005g0104
others(2): Show 
a0001c0003t0002g0085
a0001c0024t0003g0106
a0010c0031t0005g0104
a0014c0023t0001g0075
a0023c0035t0004g0147
 5 HG02451.hp1
HG02647.hp2
HG02970.hp2
others(2): Show 
HG02451.hp1
HG02647.hp2
HG02970.hp2
HG03195.hp1
NA18906.hp1
 intron_variant MODIFIER c.689+193G>A
c.689+193G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314697
chrX:314704 G
G
 C
C
 7 a0001c0003t0003g0028
a0001c0003t0003g0145
a0001c0024t0003g0106
others(4): Show 
a0001c0003t0003g0028
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0005t0004g0076
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
 7 HG00741.hp2
HG02615.hp2
HG02647.hp2
others(4): Show 
HG00741.hp2
HG02615.hp2
HG02647.hp2
HG02965.hp1
HG03579.hp2
HG06807.hp1
NA18906.hp2
 intron_variant MODIFIER c.689+186C>G
c.689+186C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314704
chrX:314719 G
G
 A
A
 1 a0001c0024t0003g0106
a0001c0024t0003g0106
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.689+171C>T
c.689+171C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314719
chrX:314723 A
A
 G
G
 146 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(143): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0061
a0001c0003t0003g0070
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
a0029c0015t0001g0008
 153 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(150): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.689+167T>C
c.689+167T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314723
chrX:314864 G
G
 A
A
 1 a0001c0001t0002g0027
a0001c0001t0002g0027
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.689+26C>T
c.689+26C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 4/9 chrX 314864
chrX:315051 CG
CG
 C
C
 1 a0003c0004t0001g0086
a0003c0004t0001g0086
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.559-32delC
c.559-32delC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 3/9 chrX 315051
chrX:315119 C
C
 T
T
 1 a0001c0003t0002g0085
a0001c0003t0002g0085
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.559-99G>A
c.559-99G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 3/9 chrX 315119
chrX:315161 G
G
 A
A
 48 a0001c0003t0002g0085
a0002c0002t0001g0068
a0002c0002t0001g0109
others(45): Show 
a0001c0003t0002g0085
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0005t0002g0006
a0002c0005t0002g0130
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0011c0014t0001g0007
a0012c0013t0001g0146
a0013c0016t0002g0009
a0021c0027t0004g0083
a0022c0033t0002g0140
a0024c0032t0001g0108
a0027c0040t0002g0148
 51 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(48): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00408.hp1
HG00558.hp1
HG00639.hp2
HG00735.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02735.hp2
HG03491.hp1
HG03654.hp2
HG03834.hp2
NA18941.hp1
NA18942.hp2
NA18949.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19070.hp1
NA19078.hp2
NA19081.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.558+68C>T
c.558+68C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 3/9 chrX 315161
chrX:315169 G
G
 A
A
 3 a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
 3 HG03195.hp2
NA18522.hp1
NA18906.hp1
HG03195.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.558+60C>T
c.558+60C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 3/9 chrX 315169
chrX:315176 CCTT
CCTT
 C
C
 72 a0001c0001t0002g0060
a0001c0003t0001g0072
a0001c0003t0001g0081
others(69): Show 
a0001c0001t0002g0060
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 75 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(72): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03491.hp1
HG03654.hp2
HG03834.hp2
HG04115.hp2
HG06807.hp2
NA18941.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.558+50_558+52delAA
others(1): Show 
c.558+50_558+52delAAG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 3/9 chrX 315176
chrX:315221 T
T
 C
C
 16 a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0003g0112
others(13): Show 
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0003g0112
a0002c0005t0004g0076
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0016
a0014c0023t0001g0075
a0015c0022t0004g0103
a0018c0030t0003g0102
a0029c0015t0001g0008
 16 HG00140.hp2
HG00639.hp1
HG00735.hp1
others(13): Show 
HG00140.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01346.hp2
HG02486.hp1
HG02970.hp2
HG06807.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp2
NA18951.hp2
NA18964.hp1
NA19057.hp2
NA20129.hp1
NA20129.hp2
 splice_region_variant&intron_variant LOW c.558+8A>G
c.558+8A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 3/9 chrX 315221
chrX:315311 A
A
 AG
AG
 1 a0001c0001t0002g0030
a0001c0001t0002g0030
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.488-13dupC
c.488-13dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315311
chrX:315317 TC
TC
 T
T
 1 a0003c0004t0001g0086
a0003c0004t0001g0086
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.488-19delG
c.488-19delG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315317
chrX:315321 G
G
 A
A
 52 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(49): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0003g0061
a0001c0003t0003g0070
a0001c0003t0003g0107
a0002c0037t0003g0133
a0004c0007t0002g0012
a0004c0007t0002g0025
a0009c0012t0002g0041
a0009c0012t0002g0042
a0019c0026t0001g0048
a0020c0025t0002g0051
a0025c0020t0002g0026
a0028c0017t0002g0010
 56 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(53): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01175.hp2
HG01943.hp1
HG02027.hp2
HG02155.hp2
HG02273.hp2
HG03017.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18993.hp1
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19011.hp2
NA19064.hp2
NA19078.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.488-22C>T
c.488-22C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315321
chrX:315340 C
C
 G
G
 81 a0001c0003t0001g0046
a0001c0003t0001g0072
a0001c0003t0001g0081
others(78): Show 
a0001c0003t0001g0046
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0015c0022t0004g0103
a0022c0033t0002g0140
a0023c0035t0004g0147
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 84 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(81): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp1
HG03130.hp2
HG03195.hp1
HG03491.hp1
HG03654.hp2
HG03834.hp2
HG06807.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-41G>C
c.488-41G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315340
chrX:315341 A
A
 G
G
 81 a0001c0003t0001g0046
a0001c0003t0001g0072
a0001c0003t0001g0081
others(78): Show 
a0001c0003t0001g0046
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0015c0022t0004g0103
a0022c0033t0002g0140
a0023c0035t0004g0147
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 84 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(81): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp1
HG03130.hp2
HG03195.hp1
HG03491.hp1
HG03654.hp2
HG03834.hp2
HG06807.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-42T>C
c.488-42T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315341
chrX:315391 G
G
 A
A
 50 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(47): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0003g0061
a0001c0003t0003g0070
a0004c0007t0002g0012
a0004c0007t0002g0025
a0009c0012t0002g0041
a0009c0012t0002g0042
a0019c0026t0001g0048
a0020c0025t0002g0051
a0025c0020t0002g0026
a0028c0017t0002g0010
 54 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(51): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01169.hp1
HG01175.hp2
HG01943.hp1
HG02027.hp2
HG02155.hp2
HG02273.hp2
HG03017.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18993.hp1
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19011.hp2
NA19064.hp2
NA19078.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.488-92C>T
c.488-92C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315391
chrX:315401 C
C
 G
G
 79 a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
others(76): Show 
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
 82 HG00099.hp2
HG00280.hp2
HG00408.hp1
others(79): Show 
HG00099.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp1
HG01167.hp1
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-102G>C
c.488-102G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315401
chrX:315411 A
A
 G
G
 80 a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
others(77): Show 
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 83 HG00099.hp2
HG00280.hp2
HG00408.hp1
others(80): Show 
HG00099.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp1
HG01167.hp1
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-112T>C
c.488-112T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315411
chrX:315413 C
C
 T
T
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.488-114G>A
c.488-114G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315413
chrX:315437 C
C
 CG
CG
 1 a0003c0004t0001g0086
a0003c0004t0001g0086
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.488-139dupC
c.488-139dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315437
chrX:315528 A
A
 AG
AG
 1 a0003c0004t0001g0086
a0003c0004t0001g0086
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.488-230dupC
c.488-230dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315528
chrX:315537 AACACAT
AACACAT
 A
A
 8 a0001c0003t0001g0081
a0001c0003t0003g0145
a0006c0011t0003g0142
others(5): Show 
a0001c0003t0001g0081
a0001c0003t0003g0145
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
 8 HG01243.hp2
HG02486.hp1
HG02615.hp2
others(5): Show 
HG01243.hp2
HG02486.hp1
HG02615.hp2
HG02965.hp1
HG02970.hp2
HG03579.hp2
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.488-244_488-239del
others(6): Show 
c.488-244_488-239delATGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315537
chrX:315539 CACAT
CACAT
 C
C
 1 a0001c0001t0001g0002
a0001c0001t0001g0002
 2 HG01070.hp2
HG01109.hp2
HG01070.hp2
HG01109.hp2
 intron_variant MODIFIER c.488-244_488-241del
others(4): Show 
c.488-244_488-241delATGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315539
chrX:315553 G
G
 GAC
GAC
 4 a0001c0001t0001g0002
a0001c0001t0002g0057
a0001c0001t0002g0067
others(1): Show 
a0001c0001t0001g0002
a0001c0001t0002g0057
a0001c0001t0002g0067
a0001c0003t0001g0005
 6 HG01070.hp1
HG01070.hp2
HG01071.hp2
others(3): Show 
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01109.hp2
HG03491.hp2
NA20805.hp1
 intron_variant MODIFIER c.488-256_488-255dup
others(2): Show 
c.488-256_488-255dupGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315553
chrX:315553 G
G
 GACAC
GACAC
 37 a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
others(34): Show 
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0056
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0003t0001g0031
a0001c0003t0001g0053
a0004c0007t0002g0012
a0009c0012t0002g0041
a0019c0026t0001g0048
a0020c0025t0002g0051
 39 HG00408.hp2
HG00733.hp1
HG01074.hp2
others(36): Show 
HG00408.hp2
HG00733.hp1
HG01074.hp2
HG01175.hp2
HG01943.hp1
HG02027.hp2
HG02155.hp2
HG02273.hp2
HG03490.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18993.hp1
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19011.hp2
NA19064.hp2
NA19078.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
 intron_variant MODIFIER c.488-258_488-255dup
others(4): Show 
c.488-258_488-255dupGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315553
chrX:315553 G
G
 GACACAC
GACACAC
 5 a0001c0001t0002g0069
a0001c0003t0003g0070
a0004c0007t0002g0025
others(2): Show 
a0001c0001t0002g0069
a0001c0003t0003g0070
a0004c0007t0002g0025
a0010c0031t0005g0104
a0028c0017t0002g0010
 5 HG03831.hp1
HG03831.hp2
NA18906.hp1
others(2): Show 
HG03831.hp1
HG03831.hp2
NA18906.hp1
NA18950.hp1
NA19089.hp1
 intron_variant MODIFIER c.488-260_488-255dup
others(6): Show 
c.488-260_488-255dupGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315553
chrX:315553 G
G
 GACACACA
others(1): Show 
GACACACAC
 1 a0001c0001t0002g0055
a0001c0001t0002g0055
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.488-262_488-255dup
others(8): Show 
c.488-262_488-255dupGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315553
chrX:315553 GAC
GAC
 G
G
 4 a0001c0003t0001g0046
a0001c0003t0003g0028
a0002c0002t0001g0139
others(1): Show 
a0001c0003t0001g0046
a0001c0003t0003g0028
a0002c0002t0001g0139
a0003c0004t0002g0096
 4 HG00741.hp2
HG01515.hp1
HG03654.hp2
others(1): Show 
HG00741.hp2
HG01515.hp1
HG03654.hp2
NA19077.hp2
 intron_variant MODIFIER c.488-256_488-255del
others(2): Show 
c.488-256_488-255delGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315553
chrX:315553 GACAC
GACAC
 G
G
 57 a0001c0003t0001g0072
a0001c0003t0003g0107
a0001c0003t0003g0112
others(54): Show 
a0001c0003t0001g0072
a0001c0003t0003g0107
a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0037t0003g0133
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0022c0033t0002g0140
a0024c0032t0001g0108
a0027c0040t0002g0148
a0029c0015t0001g0008
 59 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(56): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02451.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp1
HG03491.hp1
HG03834.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18992.hp1
NA19002.hp2
NA19057.hp1
NA19057.hp2
NA19063.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-258_488-255del
others(4): Show 
c.488-258_488-255delGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315553
chrX:315553 GACACAC
GACACAC
 G
G
 6 a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
others(3): Show 
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0024t0003g0106
a0021c0027t0004g0083
 6 HG02055.hp1
HG02109.hp2
HG02451.hp1
others(3): Show 
HG02055.hp1
HG02109.hp2
HG02451.hp1
HG02615.hp1
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-260_488-255del
others(6): Show 
c.488-260_488-255delGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315553
chrX:315553 GACACACA
others(3): Show 
GACACACACAC
 G
G
 9 a0001c0003t0001g0081
a0001c0003t0003g0145
a0006c0011t0003g0142
others(6): Show 
a0001c0003t0001g0081
a0001c0003t0003g0145
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0026c0018t0002g0018
 9 HG01243.hp2
HG02486.hp1
HG02615.hp2
others(6): Show 
HG01243.hp2
HG02486.hp1
HG02615.hp2
HG02965.hp1
HG02970.hp2
HG03579.hp2
HG06807.hp1
HG06807.hp2
NA19077.hp1
 intron_variant MODIFIER c.488-264_488-255del
others(10): Show 
c.488-264_488-255delGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315553
chrX:315553 GACACACA
others(5): Show 
GACACACACACAC
 G
G
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.488-266_488-255del
others(12): Show 
c.488-266_488-255delGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315553
chrX:315563 C
C
 CACACACA
others(379): Show 
CACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGAC
ACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACA
CAAACACATACACACGCAGACACACACACACACACACAAACACACAGTAA
ATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA
ACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACA
CACACACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGAC
ACAGACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAA
CACATGCTGGCAGGGACACAAACACATACACACGCAG
 1 a0018c0030t0003g0102
a0018c0030t0003g0102
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.488-265_488-264ins
others(386): Show 
c.488-265_488-264insCTGCGTGTGTATGTGTTTGTGTCCCTGCCA
GCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGT
GTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGG
GATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTAT
GTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTG
TGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT
GTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315563
chrX:315575 CACACACA
others(292): Show 
CACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACAG
ACAGACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGA
CACAAACACATACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACACACACAGACACATACACAGAGACACACACAAACACAGTA
AACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACA
CACACACAGTAAACACATCCCGGCAGGGACACAAACACATACACATGCAG
 C
C
 1 a0009c0012t0002g0042
a0009c0012t0002g0042
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.488-575_488-277del
c.488-575_488-277del
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315575
chrX:315597 C
C
 G
G
 32 a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0109
others(29): Show 
a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0013c0016t0002g0009
a0022c0033t0002g0140
a0024c0032t0001g0108
 33 HG00099.hp1
HG00408.hp1
HG00423.hp2
others(30): Show 
HG00099.hp1
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp2
HG00733.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01346.hp1
HG01433.hp1
HG02040.hp1
HG02129.hp2
HG02155.hp1
HG02273.hp1
HG03491.hp1
HG03654.hp2
HG03834.hp2
NA18942.hp1
NA18950.hp2
NA18956.hp2
NA18961.hp1
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA19002.hp2
NA19057.hp1
NA19063.hp1
NA19078.hp2
NA19081.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-298G>C
c.488-298G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315597
chrX:315615 A
A
 AG
AG
 1 a0003c0004t0001g0086
a0003c0004t0001g0086
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.488-317dupC
c.488-317dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315615
chrX:315616 G
G
 C
C
 4 a0002c0005t0002g0130
a0014c0023t0001g0075
a0015c0022t0004g0103
others(1): Show 
a0002c0005t0002g0130
a0014c0023t0001g0075
a0015c0022t0004g0103
a0018c0030t0003g0102
 4 HG02486.hp1
HG02970.hp2
NA18992.hp1
others(1): Show 
HG02486.hp1
HG02970.hp2
NA18992.hp1
NA20129.hp1
 intron_variant MODIFIER c.488-317C>G
c.488-317C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315616
chrX:315628 G
G
 C
C
 2 a0002c0005t0002g0130
a0018c0030t0003g0102
a0002c0005t0002g0130
a0018c0030t0003g0102
 2 NA18992.hp1
NA20129.hp1
NA18992.hp1
NA20129.hp1
 intron_variant MODIFIER c.488-329C>G
c.488-329C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315628
chrX:315630 CACACAGA
others(298): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAA
ACACATACACACACACACACACACACAGTAAATACATCCCGACAGGGACA
GACACACACACAGACACATACACAGAGACACACACAAACACAGTAAACAC
ATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACATGCAGACACA
CACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACAG
ACACAT
 C
C
 3 a0001c0001t0001g0098
a0001c0001t0002g0004
a0009c0012t0002g0041
a0001c0001t0001g0098
a0001c0001t0002g0004
a0009c0012t0002g0041
 4 HG01943.hp1
HG02273.hp2
NA18999.hp2
others(1): Show 
HG01943.hp1
HG02273.hp2
NA18999.hp2
NA19081.hp2
 intron_variant MODIFIER c.488-636_488-332del
c.488-636_488-332del
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315630
chrX:315685 T
T
 TACACACA
others(11): Show 
TACACACACAGACACACAC
 1 a0002c0002t0001g0137
a0002c0002t0001g0137
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.488-387_488-386ins
others(18): Show 
c.488-387_488-386insGTGTGTGTCTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(5): Show 
TACACACGCAGAC
 1 a0002c0002t0001g0114
a0002c0002t0001g0114
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.488-387_488-386ins
others(12): Show 
c.488-387_488-386insGTCTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(7): Show 
TACACACGCAGACAC
 4 a0001c0003t0001g0072
a0002c0002t0001g0136
a0013c0016t0002g0009
others(1): Show 
a0001c0003t0001g0072
a0002c0002t0001g0136
a0013c0016t0002g0009
a0022c0033t0002g0140
 4 HG00423.hp2
HG00741.hp1
NA18973.hp1
others(1): Show 
HG00423.hp2
HG00741.hp1
NA18973.hp1
NA19078.hp2
 intron_variant MODIFIER c.488-387_488-386ins
others(14): Show 
c.488-387_488-386insGTGTCTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(9): Show 
TACACACGCAGACACAC
 13 a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0005t0002g0006
others(10): Show 
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0005t0002g0006
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0096
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0012c0013t0001g0146
a0029c0015t0001g0008
 14 HG00140.hp2
HG00408.hp1
HG00639.hp2
others(11): Show 
HG00140.hp2
HG00408.hp1
HG00639.hp2
HG00735.hp1
HG01167.hp1
HG01346.hp2
HG01515.hp1
HG01993.hp1
HG02080.hp1
HG02258.hp2
HG02300.hp1
NA18961.hp1
NA18964.hp1
NA19011.hp1
 intron_variant MODIFIER c.488-387_488-386ins
others(16): Show 
c.488-387_488-386insGTGTGTCTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(11): Show 
TACACACGCAGACACACAC
 35 a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0110
others(32): Show 
a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0122
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0002g0095
a0004c0006t0001g0020
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0016
a0012c0013t0001g0134
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
 35 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(32): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00558.hp1
HG00639.hp1
HG00735.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG02040.hp1
HG02080.hp2
HG02129.hp2
HG02155.hp1
HG02273.hp1
HG02717.hp1
HG02735.hp2
HG03130.hp2
HG03834.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18964.hp2
NA18977.hp2
NA18992.hp1
NA19057.hp1
NA19057.hp2
NA19063.hp1
NA19077.hp1
NA19081.hp1
NA19082.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-387_488-386ins
others(18): Show 
c.488-387_488-386insGTGTGTGTCTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(13): Show 
TACACACGCAGACACACACAC
 7 a0001c0003t0001g0081
a0002c0002t0001g0109
a0002c0002t0001g0120
others(4): Show 
a0001c0003t0001g0081
a0002c0002t0001g0109
a0002c0002t0001g0120
a0002c0002t0001g0131
a0002c0002t0001g0139
a0014c0023t0001g0075
a0015c0022t0004g0103
 7 HG01071.hp1
HG02486.hp1
HG02970.hp2
others(4): Show 
HG01071.hp1
HG02486.hp1
HG02970.hp2
HG03491.hp1
HG03654.hp2
HG06807.hp2
NA19002.hp2
 intron_variant MODIFIER c.488-387_488-386ins
others(20): Show 
c.488-387_488-386insGTGTGTGTGTCTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(15): Show 
TACACACGCAGACACACACACAC
 2 a0002c0002t0001g0124
a0002c0002t0001g0138
a0002c0002t0001g0124
a0002c0002t0001g0138
 2 HG00733.hp2
HG01175.hp1
HG00733.hp2
HG01175.hp1
 intron_variant MODIFIER c.488-387_488-386ins
others(22): Show 
c.488-387_488-386insGTGTGTGTGTGTCTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(17): Show 
TACACACGCAGACACACACACACAC
 1 a0016c0021t0003g0082
a0016c0021t0003g0082
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.488-387_488-386ins
others(24): Show 
c.488-387_488-386insGTGTGTGTGTGTGTCTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(133): Show 
TACACACGCAGACACACACACACACACACAAACACACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTA
AACACATGCTGGCAGGGACACAAACACATACACACGCAGAC
 1 a0018c0030t0003g0102
a0018c0030t0003g0102
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.488-387_488-386ins
others(140): Show 
c.488-387_488-386insGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTC
TGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGT
CTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(403): Show 
TACACACGCAGACACACACACACACACACACACACACACAGTAAATACAT
CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA
CACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGAC
ACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACA
CAAACACATACACACGCAGACACACACACACACACACAAACACACAGTAA
ATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAG
AGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATA
CACACGCAGAC
 2 a0003c0004t0002g0087
a0003c0004t0002g0099
a0003c0004t0002g0087
a0003c0004t0002g0099
 2 NA18993.hp2
NA19062.hp1
NA18993.hp2
NA19062.hp1
 intron_variant MODIFIER c.488-387_488-386ins
others(410): Show 
c.488-387_488-386insGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT
GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(403): Show 
TACACACGCAGACACACACACACACACACACACACACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTA
AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA
CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA
AACACATACACACGCAGACACACACACACACACACAAACACACAGTAAAT
ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAG
ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA
CACGCAGACAC
 1 a0008c0009t0001g0001
a0008c0009t0001g0001
 2 HG02109.hp1
HG02451.hp2
HG02109.hp1
HG02451.hp2
 intron_variant MODIFIER c.488-387_488-386ins
others(410): Show 
c.488-387_488-386insGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTG
TGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT
GTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGT
GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTG
TCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGT
GTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTC
TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT
GTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(399): Show 
TACACACGCAGACACACACACACACACACACACACAGTAAATACATCCCG
ACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGAC
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.488-387_488-386ins
others(406): Show 
c.488-387_488-386insGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT
GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTGTGTCTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(1047): Show 
TACACACGCAGACACACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACA
CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA
CACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACAC
ACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACA
CATACACACGCAGACACACACACACACACACAAACACACAGTAAATACAT
CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACAC
ACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACG
CAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAG
ACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACA
CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA
CACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACAC
ACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACA
CATACACACGCAGACACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACACACACTAAATACATCCCGACAGGGACAGAC
ACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCA
GGGACACAAACACATACACACGCAGACACACACACACACACAAACACACA
GTAAATACATCCCGACAGGGACAGACACACACACACAGAGACACACACAG
AGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATA
CGCAG
 1 a0002c0002t0001g0141
a0002c0002t0001g0141
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.488-387_488-386ins
others(1054): Show 
c.488-387_488-386insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT
GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT
GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTGTCTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(133): Show 
TACACACGCAGACACACACACACACACAGTAAATACATTCCGACAGGGAC
AGACACACACACAGACACATACACAGAGACACACACAAACACAGTAAACA
CATCCCAGCAGGGACACAAACACATACACACGCAGACACAC
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.488-387_488-386ins
others(140): Show 
c.488-387_488-386insGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTATGTGTCTG
TGTGTGTGTCTGTCCCTGTCGGAATGTATTTACTGTGTGTGTGTGTGTGT
CTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(125): Show 
TACACACGCAGACACACACACACACACAGTACATTCCGACAGGGACAGAC
ACACACACAGACACATACACAGAGACACACACAAACACAGTAAACACATC
CCAGCAGGGACACAAACACATACACACGCAGAC
 1 a0001c0001t0002g0029
a0001c0001t0002g0029
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.488-387_488-386ins
others(132): Show 
c.488-387_488-386insGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
TGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTATGTGTCTGTGTG
TGTGTCTGTCCCTGTCGGAATGTACTGTGTGTGTGTGTGTGTCTGCGTGT
GT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(127): Show 
TACACACGCAGACACACACACACACACAGTACATTCCGACAGGGACAGAC
ACACACACAGACACATACACAGAGACACACACAAACACAGTAAACACATC
CCAGCAGGGACACAAACACATACACACGCAGACAC
 1 a0001c0001t0002g0035
a0001c0001t0002g0035
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.488-387_488-386ins
others(134): Show 
c.488-387_488-386insGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTATGTGTCTGTG
TGTGTGTCTGTCCCTGTCGGAATGTACTGTGTGTGTGTGTGTGTCTGCGT
GTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(129): Show 
TACACACGCAGACACACACACACACACAGTACATTCCGACAGGGACAGAC
ACACACACAGACACATACACAGAGACACACACAAACACAGTAAACACATC
CCAGCAGGGACACAAACACATACACACGCAGACACAC
 3 a0001c0001t0002g0027
a0001c0001t0002g0047
a0019c0026t0001g0048
a0001c0001t0002g0027
a0001c0001t0002g0047
a0019c0026t0001g0048
 3 HG00733.hp1
HG02155.hp2
HG03942.hp2
HG00733.hp1
HG02155.hp2
HG03942.hp2
 intron_variant MODIFIER c.488-387_488-386ins
others(136): Show 
c.488-387_488-386insGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTATGTGTCTG
TGTGTGTGTCTGTCCCTGTCGGAATGTACTGTGTGTGTGTGTGTGTCTGC
GTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(131): Show 
TACACACGCAGACACACACACACACACAGTACATTCCGACAGGGACAGAC
ACACACACAGACACATACACAGAGACACACACAAACACAGTAAACACATC
CCAGCAGGGACACAAACACATACACACGCAGACACACAC
 37 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(34): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0066
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0003g0061
a0001c0003t0003g0070
a0004c0007t0002g0012
a0020c0025t0002g0051
a0025c0020t0002g0026
a0028c0017t0002g0010
 40 HG00408.hp2
HG00558.hp2
HG00642.hp1
others(37): Show 
HG00408.hp2
HG00558.hp2
HG00642.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01169.hp1
HG01175.hp2
HG02027.hp2
HG03017.hp1
HG03490.hp2
HG03831.hp2
HG03834.hp1
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18994.hp1
NA18999.hp1
NA19002.hp1
NA19077.hp2
NA19078.hp1
NA19080.hp1
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.488-387_488-386ins
others(138): Show 
c.488-387_488-386insGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTATGTGTC
TGTGTGTGTGTCTGTCCCTGTCGGAATGTACTGTGTGTGTGTGTGTGTCT
GCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(133): Show 
TACACACGCAGACACACACACACACACAGTACATTCCGACAGGGACAGAC
ACACACACAGACACATACACAGAGACACACACAAACACAGTAAACACATC
CCAGCAGGGACACAAACACATACACACGCAGACACACACAC
 4 a0001c0001t0002g0040
a0001c0001t0002g0056
a0001c0001t0002g0065
others(1): Show 
a0001c0001t0002g0040
a0001c0001t0002g0056
a0001c0001t0002g0065
a0004c0007t0002g0025
 4 HG03831.hp1
NA18993.hp1
NA19000.hp1
others(1): Show 
HG03831.hp1
NA18993.hp1
NA19000.hp1
NA19080.hp2
 intron_variant MODIFIER c.488-387_488-386ins
others(140): Show 
c.488-387_488-386insGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTATGTG
TCTGTGTGTGTGTCTGTCCCTGTCGGAATGTACTGTGTGTGTGTGTGTGT
CTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(399): Show 
TACACACGCAGACACACACACACACACAGTACATTCCGACAGGGACAGAC
ACACACACAGACACATACACAGAGACACACACAAACACAGTAAACACATC
CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA
CACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGAC
ACACAGACAGACACACAGAGACACACACAAACACAGTAAACACATCCCGG
CAGGGACACAAACACATACACACGCAGACACACACACACACACACAGTAC
ATTCCGACAGGGACAGACACACACACAGACACATACACAGAGACACACAC
AAACACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGA
CACACAC
 1 a0001c0003t0003g0107
a0001c0003t0003g0107
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.488-387_488-386ins
others(406): Show 
c.488-387_488-386insGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTATGTGTC
TGTGTGTGTGTCTGTCCCTGTCGGAATGTACTGTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTCTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGC
GTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTATGTGTCTGTGTGTGTGTCTGTCCCTGTCGGAATGTACT
GTGTGTGTGTGTGTGTCTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315685 T
T
 TACACACG
others(127): Show 
TACACACGCAGACACACACACACAGTACATTCCGACAGGGACAGACACAC
ACACAGACACATACACAGAGACACACACAAACACAGTAAACACATCCCAG
CAGGGACACAAACACATACACACGCAGACACACAC
 1 a0001c0001t0002g0067
a0001c0001t0002g0067
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.488-387_488-386ins
others(134): Show 
c.488-387_488-386insGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTATGTGTC
TGTGTGTGTGTCTGTCCCTGTCGGAATGTACTGTGTGTGTGTGTCTGCGT
GTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315685
chrX:315687 C
C
 CACACGCA
others(1): Show 
CACACGCAG
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-389_488-388ins
others(8): Show 
c.488-389_488-388insCTGCGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315687
chrX:315687 C
C
 CACACGCA
others(1694): Show 
CACACGCAGACACACACACACACACACACACACACACACACAGTAAATAC
ATCCCGACAGGGACAGACACACACACACAGACACACACACAGAGACACAC
ACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCA
GACACACACACACACACACACACACACTAAATACATCCCGACAGGGACAG
ACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAG
CAGGGACACAAACACATACACACGCAGACACACACACACACACAAACACA
GTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACAC
ACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACA
CATACACACGCAGACACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACACAGACACATACACAGAGACACACACAAAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA
CACACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAG
ACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGA
CACAAACACATACACACGCAGACACACACACACACACACAAACAGTAAAT
ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAAC
AAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACAC
ACACACACAAACACACAGTAAATACATCCCGACACGGACAGACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACAC
AAACACATACACACGCAGACACACACACACACACACAAACACACAGTAAA
TACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGA
GACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATAC
ACACGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGG
GACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGT
AAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACAC
ACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACA
CACAGAGACACACACAAATACAGTAAACACATCCCAGCAGGGACACAAAC
ACATACACACGCAGACACACACACACACACACAGTAAATACATCCCGACA
GGGACAGACACACACACACAGACACACACACAGAGACACACACACAGTAA
ACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACA
CACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAA
ACACATACACACGCAGACACACACACACACACACAAACACACAGTAAATA
CATCCCGACAGGGACAGACACAGACACACACACAGAGACACAGAGACACA
CACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGC
AG
 1 a0006c0011t0003g0142
a0006c0011t0003g0142
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.488-389_488-388ins
others(1701): Show 
c.488-389_488-388insCTGCGTGTGTATGTGTTTGTGTCCCTGCCA
GCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTCTCTGTGTGTGTGTC
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG
TATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGT
TTGTGTCCCTGCCGGGATGTGTTTACTGTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT
GTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTAC
TGTATTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGT
GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCGTGTCGGGATGTA
TTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTGTTTGTGTGTGTCTCTGTGTGTGTGTCT
GTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
AGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTATGTGTCT
GTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTG
TGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTA
CTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTTTGTGTGTGTGTGTGTGTCTGCG
TGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTG
TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGT
GTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTG
TGTGTGTGTGTGTCTGCGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315687
chrX:315687 C
C
 CACACGCA
others(1695): Show 
CACACGCAGACACACACACACACACACACACACACACACAGTAAATACAT
CCCGACAGGGACAGACACACACACACAGACACACACACAGAGACACACAC
AAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGA
CACACACACACACACACACACACACTAAATACATCCCGACAGGGACAGAC
ACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCA
GGGACACAAACACATACACACGCAGACACACACACACACACAAACACAGT
AAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACACACGCAGACACACACACACACACACAGTAAATACATCCCGACAGGG
ACAGACACACACACACACAGACACATACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA
CACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACA
AACACATACACACGCAGACACACACACACACACACAAACAGTAAATACAT
CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA
CACACACACAAACACACAGTAAATACATCCCGACACGGACAGACACAGAC
ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACA
CAAACACATACACACGCAGACACACACACACACACACAAACACACAGTAA
ATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAG
AGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATA
CACACGCAGACACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACACACACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA
CACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAATACAGTAAACACATCCCAGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGACACACACACAGAGACACACACACAGTA
AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA
CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA
AACACATACACACGCAGACACACACACACACACACAAACACACAGTAAAT
ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACAGAGACAC
ACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACG
CAG
 3 a0001c0003t0003g0145
a0006c0011t0003g0143
a0006c0011t0003g0144
a0001c0003t0003g0145
a0006c0011t0003g0143
a0006c0011t0003g0144
 3 HG02615.hp2
HG03579.hp2
HG06807.hp1
HG02615.hp2
HG03579.hp2
HG06807.hp1
 intron_variant MODIFIER c.488-389_488-388ins
others(1702): Show 
c.488-389_488-388insCTGCGTGTGTATGTGTTTGTGTCCCTGCCA
GCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTCTCTGTGTGTGTGTC
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG
TATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGT
TTGTGTCCCTGCCGGGATGTGTTTACTGTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT
GTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTAC
TGTATTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGT
GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCGTGTCGGGATGTA
TTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG
TATTTAGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTATG
TGTCTGTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT
GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTTTGTGTGTGTGTGTGTGTCT
GCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTG
TGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGT
GTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGT
GTGTGTGTGTGTGTCTGCGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315687
chrX:315689 C
C
 CACGCAG
CACGCAG
 8 a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
others(5): Show 
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
a0021c0027t0004g0083
 8 HG00741.hp2
HG02055.hp1
HG02109.hp2
others(5): Show 
HG00741.hp2
HG02055.hp1
HG02109.hp2
HG02451.hp1
HG02615.hp1
HG03195.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.488-391_488-390ins
others(6): Show 
c.488-391_488-390insCTGCGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315689
chrX:315691 C
C
 CGCAGACA
others(1033): Show 
CGCAGACACACACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACACACGCAGACACACACACACACACACAAACACACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACAC
ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCA
GACACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAG
ACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACA
CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA
CACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACAC
ACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACA
CATACACACGCAGACACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGAGACACACACAAACACAGTAAACACATC
CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA
CACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACACA
TACACACGCAGACACACACACACACACAAACACACAGTAAATACATCCCG
ACAGGGACAGACACACACACACAGAGACACACACAGAGACACACACAAAC
ACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAG
 1 a0003c0004t0002g0100
a0003c0004t0002g0100
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.488-393_488-392ins
others(1040): Show 
c.488-393_488-392insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCT
GCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTG
TGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACT
GTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGT
GTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTC
TGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
CTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGT
GTGTGTCTGC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315691
chrX:315691 C
C
 CGCAGACA
others(1045): Show 
CGCAGACACACACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACACACGCAGACACACACACACACACACAAACACACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACAC
ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCA
GACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGAC
ACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACAACACACACACAC
ACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACA
CAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAAACA
CATACACACGCAGACACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACACACTAAATACATCCCGACAGGGACAGACAC
AGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGG
GACACAAACACATACACACGCAGACACACACACACACACAAACACACAGT
AAATACATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAG
ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACG
CAG
 1 a0003c0004t0001g0086
a0003c0004t0001g0086
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.488-393_488-392ins
others(1052): Show 
c.488-393_488-392insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT
GTGTGTGTGTCTGCGTGTGTATGTGTTTTGTGTCCCTGCCAGCATGTGTT
TACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCG
GGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT
GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT
GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTGTGTGTCTGC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315691
chrX:315691 C
C
 CGCAGACA
others(1039): Show 
CGCAGACACACACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACACACGCAGACACACACACACACACACAAACACACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACAC
ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCA
GACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGAC
ACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACACACGCAGACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACACACACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA
CACACACACACACACACAAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACA
AACACATACACACGCAGACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAGACACAC
ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAG
 1 a0002c0002t0001g0074
a0002c0002t0001g0074
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.488-393_488-392ins
others(1046): Show 
c.488-393_488-392insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTT
GTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG
TATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGT
TTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT
GTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG
TATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGT
TTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGT
GTGTGTGTGTGTCTGC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315691
chrX:315691 C
C
 CGCAGACA
others(1045): Show 
CGCAGACACACACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACACACGCAGACACACACACACACACACAAACACACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACAC
ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCA
GACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGAC
ACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACACACGCAGACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACACACACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA
CACACACACACACACACACACACTAAATACATCCCGACAGGGACAGACAC
AGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGG
GACACAAACACATACACACGCAGACACACACACACACACAAACACACAGT
AAATACATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAG
ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACG
CAG
 1 a0003c0004t0002g0088
a0003c0004t0002g0088
 1 NA19055.hp2
NA19055.hp2
 intron_variant MODIFIER c.488-393_488-392ins
others(1052): Show 
c.488-393_488-392insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT
GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT
GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTGTGTGTCTGC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315691
chrX:315691 C
C
 CGCAGACA
others(1037): Show 
CGCAGACACACACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACACACGCAGACACACACACACACACACAAACACACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACAC
ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCA
GACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGAC
ACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACACACGCAGACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACACACACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA
CACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACAAACACACAGTAAATACAT
CCCGACAGGGACAGACACACACACACAGAGACACACACAGAGACACACAC
AAACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAG
 1 a0011c0014t0001g0007
a0011c0014t0001g0007
 2 NA18949.hp2
NA18957.hp2
NA18949.hp2
NA18957.hp2
 intron_variant MODIFIER c.488-393_488-392ins
others(1044): Show 
c.488-393_488-392insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
GTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGT
GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGT
GTGTGTGTGTCTGC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315691
chrX:315691 C
C
 CGCAGACA
others(1039): Show 
CGCAGACACACACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACAGACACACAGAGACACACACAAACACAGTAAACACATCCC
GGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAAA
CACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAG
ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA
CACGCAGACACACACACACACACACAAACACACAGTAAATACATCCCGAC
AGGGACAGACACAGACACACACACAGAGACACACACAGAGACACACACAA
ACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACA
CACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAC
ACACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC
GGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAAA
CACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAG
ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA
CACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACA
AACACATACACACGCAGACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAGACACAC
ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAG
 2 a0003c0004t0002g0080
a0003c0039t0002g0094
a0003c0004t0002g0080
a0003c0039t0002g0094
 2 HG01993.hp2
NA18991.hp2
HG01993.hp2
NA18991.hp2
 intron_variant MODIFIER c.488-393_488-392ins
others(1046): Show 
c.488-393_488-392insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT
GTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGG
GATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTAT
GTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTG
TGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGT
GTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCA
GCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGT
GTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGG
GATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTAT
GTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTG
TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGT
GTGTGTGTGTGTCTGC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315691
chrX:315691 C
C
 CGCAGACA
others(1035): Show 
CGCAGACACACACACACACACACACACACAGTAAATACATCCCGACAGGG
ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC
CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA
AACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAG
AGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATA
CACACGCAGACACACACACACACACACAAACACACAGTAAATACATCCCG
ACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACACAC
AAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGA
CACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACAC
ACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC
CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA
AACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAG
AGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATA
CACACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGG
ACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGTA
AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA
CACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACAC
ACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACA
CATACACACGCAGACACACACACACACACAAACACACAGTAAATACATCC
CGACAGGGACAGACACACACACACAGAGACACACACAGAGACACACACAA
ACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAG
 1 a0003c0038t0001g0097
a0003c0038t0001g0097
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.488-393_488-392ins
others(1042): Show 
c.488-393_488-392insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
GTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGT
GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGT
GTGTGTGTCTGC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315691
chrX:315691 C
C
 CGCAGACA
others(1041): Show 
CGCAGACACACACACACACACACACACACAGTAAATACATCCCGACAGGG
ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC
CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA
AACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAG
ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA
CACGCAGACACACACACACACACACAAACACACAGTAAATACATCCCGAC
AGGGACAGACACAGACACACACACAGAGACACACACAGAGACACACACAA
ACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACA
CACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAC
ACACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC
GGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAAA
CACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAG
ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA
CACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATGCACACGCAGACACACACACACA
CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC
ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACA
CAAACACATACACACGCAGACACACACACACACACAAACACACAGTAAAT
ACATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAGACAC
ACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAG
 1 a0002c0034t0003g0073
a0002c0034t0003g0073
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.488-393_488-392ins
others(1048): Show 
c.488-393_488-392insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGCATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT
GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT
GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTAT
GTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTG
TGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT
GTGTGTGTGTGTGTCTGC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315691
chrX:315691 C
C
 CGCAGACA
others(1039): Show 
CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC
GGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAAA
CACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAG
ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA
CACGCAGACACACACACACACACACAAACACACAGTAAATACATCCCGAC
AGGGACAGACACAGACACACACACAGAGACACACACAGAGACACACACAA
ACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACA
CACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAC
ACACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC
GGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAAA
CACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAG
ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA
CACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACA
AACACATACACACGCAGACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAGACACAC
ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAG
 1 a0003c0004t0001g0092
a0003c0004t0001g0092
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.488-393_488-392ins
others(1046): Show 
c.488-393_488-392insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT
GTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGG
GATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTAT
GTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTG
TGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGT
GTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCA
GCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGT
GTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGG
GATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTAT
GTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTG
TGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT
GTGTGTGTGTGTCTGC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315691
chrX:315729 A
A
 ACACACAC
others(113): Show 
ACACACACAGACACATACACAGAGACACACACAAACACAGTAAACACATC
CCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA
CAGTAAATACATCCCGACAGG
 2 a0010c0029t0005g0077
a0017c0028t0005g0078
a0010c0029t0005g0077
a0017c0028t0005g0078
 2 HG03195.hp2
NA18522.hp1
HG03195.hp2
NA18522.hp1
 intron_variant MODIFIER c.488-431_488-430ins
others(120): Show 
c.488-431_488-430insCCTGTCGGGATGTATTTACTGTGTGTGTGT
GTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTATGTGTCTGTGTGTG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315729
chrX:315730 G
G
 GAC
GAC
 71 a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0003g0112
others(68): Show 
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0018c0030t0003g0102
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 73 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(70): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02717.hp1
HG02735.hp2
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03491.hp1
HG03654.hp2
HG03834.hp2
HG06807.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-433_488-432dup
others(2): Show 
c.488-433_488-432dupGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315730
chrX:315730 G
G
 GACAC
GACAC
 6 a0001c0003t0001g0105
a0001c0003t0003g0145
a0001c0024t0003g0106
others(3): Show 
a0001c0003t0001g0105
a0001c0003t0003g0145
a0001c0024t0003g0106
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
 6 HG02615.hp2
HG02647.hp2
HG02965.hp1
others(3): Show 
HG02615.hp2
HG02647.hp2
HG02965.hp1
HG03579.hp2
HG06807.hp1
NA19043.hp2
 intron_variant MODIFIER c.488-435_488-432dup
others(4): Show 
c.488-435_488-432dupGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315730
chrX:315730 G
G
 GACACAGA
others(1565): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACAAAC
ACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACACACAAACACACAGTAAATACATCCCGACA
GGGACAGACACAGACACACACACAGAGACACACACAGAGACACACACAAA
CACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACACACACACACACACAGTAAATACATCCCGACAGGGA
CAGACACAGACACACAGACAGACACACAGAGACACACACAAACACAGTAA
ACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACACA
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAA
ACACATACACACGCAGACACACACACACACACACAAACACACAGTAAATA
CATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACA
CAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACACAC
ACACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACA
GACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAACAC
ATGCTGGCAGGGACACAAACACATACACACGCAGACACACACACACACAC
ACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGACACA
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAA
ACACATACACACGCAGACACACACACACACACACAAACACACAGTAAATA
CATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACA
CAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACACAC
ACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACACACAC
ACTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGC
AGACACACACACACACACAAACACACAGTAAATACATCCCGACAGGGACA
GACACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAAC
ACATGCTGGCAGGGACACAAACACATACGCAGACACACACACACACAGTA
AATACATCCCGACAGGGACAGAC
 1 a0003c0004t0001g0089
a0003c0004t0001g0089
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.488-432_488-431ins
others(1572): Show 
c.488-432_488-431insGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCT
GTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTG
TATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCT
CTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTG
TGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGG
GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGT
GTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCT
GTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTG
TGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTA
CTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCT
GTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTG
TGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGTGTCTGTCTGTGTGTCTGTGTCTGTCCCTGT
CGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGG
ATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATG
TGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGT
GTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTG
TGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATG
TGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315730
chrX:315730 G
G
 GACACAGA
others(1029): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACAAAC
ACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACACACAAACACACAGTAAATACATCCCGACA
GGGACAGACACAGACACACACACAGAGACACACACAGAGACACACACAAA
CACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACA
CACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACAAAC
ACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGGACA
GACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACA
CACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAA
ACACATACACACGCAGACACACACACACACACAAACACACAGTAAATACA
TCCCGACAGGGACAGACACACACACACAGAGACACACACAGAGACACACA
CAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAGACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGAC
 1 a0003c0004t0002g0090
a0003c0004t0002g0090
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.488-432_488-431ins
others(1036): Show 
c.488-432_488-431insGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCT
GTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTG
TATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCT
CTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTG
TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGT
GTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
CTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTG
TGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTT
TACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
CTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315730
chrX:315730 G
G
 GACACAGA
others(1027): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACAAAC
ACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACACACAAACACACAGTAAATACATCCCGACA
GGGACAGACACAGACACACACACAGAGACACACACAGAGACACACACAAA
CACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACA
CACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACA
CACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACAC
GCAGACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGA
CACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACAC
ATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACAC
ACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACA
CACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAAC
ACATACACACGCAGACACACACACACACACAAACACACAGTAAATACATC
CCGACAGGGACAGACACACACACACAGAGACACACACAGAGACACACACA
AACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAGACACAC
ACACACACAGTAAATACATCCCGACAGGGACAGAC
 1 a0003c0004t0001g0091
a0003c0004t0001g0091
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.488-432_488-431ins
others(1034): Show 
c.488-432_488-431insGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCT
GTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTG
TATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCT
CTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTG
TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGT
GTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCT
GTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTG
TGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTA
CTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCT
GTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315730
chrX:315730 G
G
 GACACAGA
others(1025): Show 
GACACAGACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACAAACACAC
AGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACAAACACACAGTAAATACATCCCGACAGGGA
CAGACACAGACACACACACAGAGACACACACAGAGACACACACAAACACA
GTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACACACAC
ACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACAAACACAC
AGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACAT
CCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACAC
ACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACACA
CAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACAC
ATACACACGCAGACACACACACACACACAAACACACAGTAAATACATCCC
GACAGGGACAGACACACACACACAGAGACACACACAGAGACACACACAAA
CACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAGACACACAC
ACACACAGTAAATACATCCCGACAGGGACAGAC
 2 a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0095
a0003c0004t0002g0096
 2 HG01361.hp1
HG01515.hp1
HG01361.hp1
HG01515.hp1
 intron_variant MODIFIER c.488-432_488-431ins
others(1032): Show 
c.488-432_488-431insGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCT
GTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTG
TATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCT
CTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTG
TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGT
GTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
CTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTG
TGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTT
TACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTCTGT
GT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315730
chrX:315730 G
G
 GACACAGA
others(1023): Show 
GACACAGACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACAAACACAC
AGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACAAACACACAGTAAATACATCCCGACAGGGA
CAGACACAGACACACACACAGAGACACACACAGAGACACACACAAACACA
GTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACACACAC
ACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACAAACACAC
AGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACAT
CCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACAC
ACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACACACA
GAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACACAT
ACACACGCAGACACACACACACACACAAACACACAGTAAATACATCCCGA
CAGGGACAGACACACACACACAGAGACACACACAGAGACACACACAAACA
CAGTAAACACATGCTGGCAGGGACACAAACACATACGCAGACACACACAC
ACACAGTAAATACATCCCGACAGGGACAGAC
 1 a0003c0004t0002g0093
a0003c0004t0002g0093
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.488-432_488-431ins
others(1030): Show 
c.488-432_488-431insGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCT
GTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTG
TATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCT
CTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTG
TGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGG
GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGT
GTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCT
GTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTG
TGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTA
CTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315730
chrX:315730 G
G
 GACACAGA
others(1023): Show 
GACACAGACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACAAACACAC
AGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACAAACACACAGTAAATACATCCCGACAGGGA
CAGACACAGACACACACACAGAGACACACACAGAGACACACACAAACACA
GTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACACACAC
ACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGG
ACACAAACACATACACACGCAGACACACACACACACACACAAACACACAG
TAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACA
CAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACA
CACACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAC
ACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACACACA
GAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACACAT
ACACACGCAGACACACACACACACACAAACACACAGTAAATACATCCCGA
CAGGGACAGACACACACACACAGAGACACACACAGAGACACACACAAACA
CAGTAAACACATGCTGGCAGGGACACAAACACATACGCAGACACACACAC
ACACAGTAAATACATCCCGACAGGGACAGAC
 1 a0002c0005t0002g0006
a0002c0005t0002g0006
 2 HG00639.hp2
HG01167.hp1
HG00639.hp2
HG01167.hp1
 intron_variant MODIFIER c.488-432_488-431ins
others(1030): Show 
c.488-432_488-431insGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCT
GTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTG
TATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCT
CTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTG
TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGT
GTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
CTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTG
TGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTA
CTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315730
chrX:315734 C
C
 G
G
 2 a0010c0029t0005g0077
a0017c0028t0005g0078
a0010c0029t0005g0077
a0017c0028t0005g0078
 2 HG03195.hp2
NA18522.hp1
HG03195.hp2
NA18522.hp1
 intron_variant MODIFIER c.488-435G>C
c.488-435G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315734
chrX:315740 C
C
 CAG
CAG
 2 a0013c0016t0002g0009
a0022c0033t0002g0140
a0013c0016t0002g0009
a0022c0033t0002g0140
 2 NA18973.hp1
NA19078.hp2
NA18973.hp1
NA19078.hp2
 intron_variant MODIFIER c.488-443_488-442dup
others(2): Show 
c.488-443_488-442dupCT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315740
chrX:315748 T
T
 C
C
 80 a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0003g0112
others(77): Show 
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0018c0030t0003g0102
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 83 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(80): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02717.hp1
HG02735.hp2
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03491.hp1
HG03654.hp2
HG03834.hp2
HG06807.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-449A>G
c.488-449A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315748
chrX:315784 C
C
 T
T
 3 a0001c0001t0001g0002
a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0001t0001g0002
a0001c0003t0001g0105
a0001c0024t0003g0106
 4 HG01070.hp2
HG01109.hp2
HG02647.hp2
others(1): Show 
HG01070.hp2
HG01109.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-485G>A
c.488-485G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315784
chrX:315785 A
A
 G
G
 86 a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
others(83): Show 
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0018c0030t0003g0102
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 89 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(86): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-486T>C
c.488-486T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315785
chrX:315786 G
G
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-487C>T
c.488-487C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315786
chrX:315793 C
C
 CAG
CAG
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-495_488-494ins
others(2): Show 
c.488-495_488-494insCT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315793
chrX:315797 A
A
 T
T
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-498T>A
c.488-498T>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315797
chrX:315803 T
T
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-504A>G
c.488-504A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315803
chrX:315813 G
G
 GAC
GAC
 1 a0001c0001t0002g0058
a0001c0001t0002g0058
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.488-516_488-515dup
others(2): Show 
c.488-516_488-515dupGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315813
chrX:315813 G
G
 GACAC
GACAC
 45 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(42): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0003g0061
a0001c0003t0003g0070
a0001c0003t0003g0107
a0004c0007t0002g0012
a0004c0007t0002g0025
a0019c0026t0001g0048
a0020c0025t0002g0051
a0025c0020t0002g0026
a0028c0017t0002g0010
 47 HG00408.hp2
HG00558.hp2
HG00642.hp1
others(44): Show 
HG00408.hp2
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG01070.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01175.hp2
HG02027.hp2
HG02155.hp2
HG03017.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18993.hp1
NA18994.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp2
NA19064.hp2
NA19077.hp2
NA19078.hp1
NA19080.hp1
NA19080.hp2
NA19085.hp2
NA19089.hp1
 intron_variant MODIFIER c.488-518_488-515dup
others(4): Show 
c.488-518_488-515dupGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315813
chrX:315813 G
G
 GACACAC
GACACAC
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.488-520_488-515dup
others(6): Show 
c.488-520_488-515dupGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315813
chrX:315813 G
G
 GACACACA
others(1): Show 
GACACACAC
 2 a0001c0001t0002g0057
a0001c0003t0001g0005
a0001c0001t0002g0057
a0001c0003t0001g0005
 3 HG01070.hp1
HG01071.hp2
NA20805.hp1
HG01070.hp1
HG01071.hp2
NA20805.hp1
 intron_variant MODIFIER c.488-522_488-515dup
others(8): Show 
c.488-522_488-515dupGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315813
chrX:315815 CACACACA
others(52): Show 
CACACACACACACACACAGTAAACACATCCCGGCAGGGACACAAACACAT
ACACATGCAG
 C
C
 1 a0021c0027t0004g0083
a0021c0027t0004g0083
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.488-575_488-517del
others(59): Show 
c.488-575_488-517delCTGCATGTGTATGTGTTTGTGTCCCTGCCG
GGATGTGTTTACTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315815
chrX:315817 C
C
 CACAGAG
CACAGAG
 1 a0001c0024t0003g0106
a0001c0024t0003g0106
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.488-519_488-518ins
others(6): Show 
c.488-519_488-518insCTCTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315817
chrX:315819 C
C
 CAGAG
CAGAG
 1 a0001c0003t0001g0105
a0001c0003t0001g0105
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-521_488-520ins
others(4): Show 
c.488-521_488-520insCTCT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315819
chrX:315819 CACACACA
others(48): Show 
CACACACACACACAGTAAACACATCCCGGCAGGGACACAAACACATACAC
ATGCAG
 C
C
 4 a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
others(1): Show 
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0010c0031t0005g0104
 4 HG02055.hp1
HG02109.hp2
HG02451.hp1
others(1): Show 
HG02055.hp1
HG02109.hp2
HG02451.hp1
NA18906.hp1
 intron_variant MODIFIER c.488-575_488-521del
others(55): Show 
c.488-575_488-521delCTGCATGTGTATGTGTTTGTGTCCCTGCCG
GGATGTGTTTACTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315819
chrX:315823 CACACACA
others(44): Show 
CACACACACAGTAAACACATCCCGGCAGGGACACAAACACATACACATGC
AG
 C
C
 1 a0001c0003t0003g0028
a0001c0003t0003g0028
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.488-575_488-525del
others(51): Show 
c.488-575_488-525delCTGCATGTGTATGTGTTTGTGTCCCTGCCG
GGATGTGTTTACTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315823
chrX:315827 C
C
 CACACAAA
others(60): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAA
 6 a0002c0005t0004g0076
a0003c0004t0002g0087
a0003c0004t0002g0099
others(3): Show 
a0002c0005t0004g0076
a0003c0004t0002g0087
a0003c0004t0002g0099
a0004c0006t0003g0013
a0008c0009t0001g0001
a0024c0032t0001g0108
 7 HG01346.hp2
HG02109.hp1
HG02451.hp2
others(4): Show 
HG01346.hp2
HG02109.hp1
HG02451.hp2
HG03834.hp2
NA18906.hp2
NA18993.hp2
NA19062.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(67): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(458): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACAAACACACAGTAAATACAT
CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACAC
ACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACG
CAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAG
ACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACA
CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA
CACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACAC
ACAGAGACACACACAA
 1 a0002c0002t0001g0109
a0002c0002t0001g0109
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(465): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGG
ATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
AGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(200): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAA
 2 a0001c0003t0001g0072
a0002c0002t0001g0114
a0001c0003t0001g0072
a0002c0002t0001g0114
 2 HG00741.hp1
HG01123.hp2
HG00741.hp1
HG01123.hp2
 intron_variant MODIFIER c.488-529_488-528ins
others(207): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTCTCTGTGT
GTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTG
TGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTG
TTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGT
CGGGATGTATTTACTGTGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(462): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACACACAGTAAATACATCCCGACAGGG
ACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGTA
AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA
CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAA
 1 a0027c0040t0002g0148
a0027c0040t0002g0148
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.488-529_488-528ins
others(469): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGG
ATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTG
TTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTG
TGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(1236): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACACACAGTAAATACATCCCGACAGGG
ACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGTA
AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA
CACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA
AACACATACACACGCAGACACACACACACACACACACAGTAAATACATCC
CGACAGGGACAGACACACACACACAGACACACACACAGAGACACACACAA
ACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACA
CACACACACACACACACACACACACACACTAAATACATCCCGACAGGGAC
AGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC
AGCAGGGACACAAACACATACACACGCAGACACACACACACACACAAACA
CACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACACAC
ACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACA
CATACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGG
ACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGTA
AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA
CACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACA
AACACATACACACGCAGACACACACACACACACACAAACAGTAAATACAT
CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA
 1 a0012c0013t0001g0146
a0012c0013t0001g0146
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.488-529_488-528ins
others(1243): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTG
TGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGG
ATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTG
TTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTG
TGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGA
TGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGT
GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTG
TGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTA
CTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(1228): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACACACGCAGACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACACACACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA
CACACACACACACACACACACACTAAATACATCCCGACAGGGACAGACAC
AGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGG
GACACAAACACATACACACGCAGACACACACACACACACAAACACACAGT
AAATACATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAG
ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACG
CAGACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGAC
ACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CACACACACTAAATACATCCCGACAGGGACAGACACAGACACACACACAG
AGACACACACAAACACAGTAAACACATCCCAGCATGGACACAAACACATA
CACACGCAGACACACACACACACACACAAACAGTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAA
 1 a0002c0002t0001g0138
a0002c0002t0001g0138
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(1235): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAT
GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTG
TGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATG
TGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGCG
TGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGG
GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGT
GTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGT
CGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTG
TATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCT
CTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTT
TGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(460): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAA
 14 a0002c0002t0001g0068
a0002c0002t0001g0115
a0002c0002t0001g0117
others(11): Show 
a0002c0002t0001g0068
a0002c0002t0001g0115
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0131
a0002c0002t0001g0132
a0004c0006t0001g0020
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0013c0016t0002g0009
 14 HG02735.hp2
HG03491.hp1
NA18941.hp1
others(11): Show 
HG02735.hp2
HG03491.hp1
NA18941.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18964.hp2
NA18977.hp2
NA19002.hp2
NA19057.hp1
NA19057.hp2
NA19078.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(467): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGG
ATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(1234): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACACAGTAAATACATCCCG
ACAGGGACAGACACACACACACAGACACACACACAGAGACACACACAAAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA
CACACACACACACACACACACACACACACTAAATACATCCCGACAGGGAC
AGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC
AGCAGGGACACAAACACATACACACGCAGACACACACACACACACAAACA
CACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACACAC
ACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACA
CATACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGG
ACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGTA
AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA
CACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAA
 2 a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0128
a0002c0002t0001g0129
 2 HG00558.hp1
NA18942.hp1
HG00558.hp1
NA18942.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(1241): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAT
GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTG
TGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGA
TGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGT
GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTG
TGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTG
TGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGT
CCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTG
TGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(1232): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACACAGTAAATACATCCCG
ACAGGGACAGACACACACACACAGACACACACACAGAGACACACACAAAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA
CACACACACACACACACACACACACACTAAATACATCCCGACAGGGACAG
ACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAG
CAGGGACACAAACACATACACACGCAGACACACACACACACACAAACACA
CAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACAC
ACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACAAACA
CATACACACGCAGACACACACACACACACACAAACAGTAAATACATCCCG
ACAGGGACAGACACAGACACACACACACAGACACACACAA
 1 a0002c0005t0002g0130
a0002c0005t0002g0130
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(1239): Show 
c.488-529_488-528insTTGTGTGTGTCTGTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAT
GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTG
TGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATG
TGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGCG
TGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCC
CTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCG
TGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(1232): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACACAGTAAATACATCCCG
ACAGGGACAGACACACACACACAGACACACACACAGAGACACACACAAAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA
CACACACACACACACACACACACACACTAAATACATCCCGACAGGGACAG
ACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAG
CAGGGACACAAACACATACACACGCAGACACACACACACACACAAACACA
CAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACAC
ACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACAAACA
CATACACACGCAGACACACACACACACACACAAACAGTAAATACATCCCG
ACAGGGACAGACACAGACACACACACAGAGACACACACAA
 6 a0001c0003t0003g0112
a0002c0002t0001g0110
a0002c0002t0001g0135
others(3): Show 
a0001c0003t0003g0112
a0002c0002t0001g0110
a0002c0002t0001g0135
a0002c0002t0001g0137
a0002c0002t0002g0125
a0002c0005t0002g0121
 6 HG01346.hp1
HG01433.hp1
HG02040.hp1
others(3): Show 
HG01346.hp1
HG01433.hp1
HG02040.hp1
HG02129.hp2
HG02273.hp1
NA20129.hp2
 intron_variant MODIFIER c.488-529_488-528ins
others(1239): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAT
GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTG
TGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATG
TGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGCG
TGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCC
CTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCG
TGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(1234): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACACAGTAAATACATCCCG
ACAGGGACAGACACACACACACAGACACACACACAGAGACACACACAAAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA
CACACACACACACACACACACACACACTAAATACATCCCGACAGGGACAG
ACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAG
CAGGGACACAAACACATACACACGCAGACACACACACACACACACAAACA
CACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACACAC
ACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACA
CATACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGG
ACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGTA
AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA
CACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAA
 1 a0002c0002t0001g0113
a0002c0002t0001g0113
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(1241): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAT
GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTG
TTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTG
TGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGA
TGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGT
GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTG
TGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTG
TGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGT
CCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTG
TGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(1230): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACACAGTAAATACATCCCG
ACAGGGACAGACACACACACACAGACACACACACAGAGACACACACAAAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA
CACACACACACACACACACACACACTAAATACATCCCGACAGGGACAGAC
ACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCA
GGGACACAAACACATACACACGCAGACACACACACACACACAAACACACA
GTAAATACATCCCGACAGGGACAGACACACACACACAGAGACACACACAG
AGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATA
CGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGGACAG
ACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACA
CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA
CACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACAAACACA
TACACACGCAGACACACACACACACACACAAACAGTAAATACATCCCGAC
AGGGACAGACACAGACACACACACAGAGACACACACAA
 2 a0002c0002t0001g0122
a0002c0005t0002g0123
a0002c0002t0001g0122
a0002c0005t0002g0123
 2 HG02155.hp1
NA19063.hp1
HG02155.hp1
NA19063.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(1237): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAT
GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTG
TGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTG
TTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGCGTG
TGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGT
CTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTG
TTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGT
GTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCT
GTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTG
TGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGT
CTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTG
TTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(629): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACGACAGGGACAGACACACACACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACACACAAACACACAGTAAATACATCCCGACA
GGGACAGACACAGACACACACACAGAGACACACACAA
 1 a0002c0036t0001g0071
a0002c0036t0001g0071
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.488-529_488-528ins
others(636): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGTC
TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT
TTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCG
GGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTG
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGT
GTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTG
TCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGT
GTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTC
TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT
TTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(458): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACAC
ACAGAGACACACACAA
 1 a0002c0037t0003g0133
a0002c0037t0003g0133
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.488-529_488-528ins
others(465): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAT
GTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
CTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTG
TTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
AGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(456): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAA
 1 a0002c0002t0001g0116
a0002c0002t0001g0116
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(463): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGT
ATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCT
CTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTT
TGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAG
CATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGT
CCCTGTCGGGATGTATTTACTGTGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(1226): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGGACAG
ACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACA
CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA
AACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAG
AGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATA
CACACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGG
ACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGTA
AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA
CACACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAG
ACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGA
CACAAACACATACACACGCAGACACACACACACACACAAACACACAGTAA
ATACATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCA
GACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACAC
ACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC
CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA
CACACACTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAG
ACACACACAAACACAGTAAACACATCCCAGCATGGACACAAACACATACA
CACGCAGACACACACACACACACACAAACAGTAAATACATCCCGACAGGG
ACAGACACAGACACACACACAGAGACACACACAA
 1 a0002c0002t0001g0136
a0002c0002t0001g0136
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.488-529_488-528ins
others(1233): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAT
GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTG
TGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATG
TGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGCG
TGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGG
GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGT
GTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCG
GGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTA
TGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCT
GTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTG
TGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(1230): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGGACAG
ACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACA
CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA
CACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACAC
ACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACA
CATACACACGCAGACACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACACACACTAAATACATCCCGACAGGGACAGAC
ACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCA
GGGACACAAACACATACACACGCAGACACACACACACACACAAACACACA
GTAAATACATCCCGACAGGGACAGACACACACACACAGAGACACACACAG
AGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATA
CGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGGACAG
ACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACA
CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA
CACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACAAACACA
TACACACGCAGACACACACACACACACACAAACAGTAAATACATCCCGAC
AGGGACAGACACAGACACACACACAGAGACACACACAA
 1 a0002c0002t0001g0124
a0002c0002t0001g0124
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.488-529_488-528ins
others(1237): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAT
GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTG
TGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATG
TGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGCG
TGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCT
GTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTG
TGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGT
CTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTG
TTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(458): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACG
CAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAG
ACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACA
CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA
CACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACAC
ACAGAGACACACACAA
 3 a0005c0010t0001g0024
a0012c0013t0001g0134
a0026c0018t0002g0018
a0005c0010t0001g0024
a0012c0013t0001g0134
a0026c0018t0002g0018
 3 HG02080.hp2
NA19077.hp1
NA19082.hp1
HG02080.hp2
NA19077.hp1
NA19082.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(465): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGG
ATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTATGTGTTTG
TGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
CTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTG
TTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
AGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(572): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC
ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCA
GACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACAC
ACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGG
CAGGGACACAAACACATACACACGCAGACACACACACACACACACACACA
CACTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACAC
ACACAAACACAGTAAACACATCCCAGCATGGACACAAACACATACACACG
CAGACACACACACACACACACAAACAGTAAATACATCCCGACAGGGACAG
ACACAGACACACACACAGAGACACACACAA
 1 a0002c0002t0001g0139
a0002c0002t0001g0139
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.488-529_488-528ins
others(579): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTC
TGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTG
TTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(1234): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACACAAACACACAGTAAAT
ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAG
ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA
CACGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGG
ACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGTA
AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA
CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA
AACACATACACACGCAGACACACACACACACACACACAGTAAATACATCC
CGACAGGGACAGACACACACACACAGACACACACACAGAGACACACACAA
ACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACA
CACACACACACACACACACACACACACACTAAATACATCCCGACAGGGAC
AGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC
AGCAGGGACACAAACACATACACACGCAGACACACACACACACACAAACA
CACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACACAC
ACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACA
CATACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGG
ACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGTA
AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA
CACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAA
 2 a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0126
a0002c0002t0001g0127
 2 HG00408.hp1
NA18961.hp1
HG00408.hp1
NA18961.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(1241): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAT
GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTG
TGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATG
TGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGCG
TGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCC
CTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTG
TGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(444): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACACACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAG
ACACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGA
CACAAACACATACACACGCAGACACACACACACACACACAAACACACAGT
AAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACAC
AA
 1 a0002c0005t0001g0079
a0002c0005t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(451): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
CTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTG
TGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTATTTACTGTGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(818): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC
ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACA
CAAACACATACACACGCAGACACACACACACACACAAACACACAGTAAAT
ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA
CACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACAC
ACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGG
CAGGGACACAAACACATACACACGCAGACACACACACACACACACACTAA
ATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA
ACACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACA
CACACACACACACACACAAACAGTAAATACATCCCGACAGGGACAGACAC
AGACACAGACACAGAGACACACACAA
 2 a0006c0011t0003g0143
a0006c0011t0003g0144
a0006c0011t0003g0143
a0006c0011t0003g0144
 2 HG03579.hp2
HG06807.hp1
HG03579.hp2
HG06807.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(825): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTCTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAG
TGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGG
GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGT
GTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCT
GTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCG
GGATGTATTTACTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(816): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC
ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACA
CAAACACATACACACGCAGACACACACACACACACACACACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACTAAATACATCCCGACAGGGACAGACACACACAC
ACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCA
GGGACACAAACACATACACACGCAGACACACACACACACACACACTAAAT
ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAAC
ACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACACA
CACACACACACACACAAACAGTAAATACATCCCGACAGGGACAGACACAG
ACACAGACACAGAGACACACACAA
 1 a0001c0003t0003g0145
a0001c0003t0003g0145
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.488-529_488-528ins
others(823): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTCTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAG
TGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGG
GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGT
GTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGG
ATGTATTTACTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
CTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACAAA
others(180): Show 
CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACAGACACACACACAGAGACACACACAA
 3 a0004c0006t0003g0015
a0004c0007t0002g0014
a0029c0015t0001g0008
a0004c0006t0003g0015
a0004c0007t0002g0014
a0029c0015t0001g0008
 3 HG00140.hp2
HG00735.hp1
NA18964.hp1
HG00140.hp2
HG00735.hp1
NA18964.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(187): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTCTGCGTG
TGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGT
CTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTG
TTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACACA
others(462): Show 
CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA
AACACATACACACGCAGACACACACACACACACACAAACACACAGTAAAT
ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAG
ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACA
CACGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGG
ACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGTA
AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA
CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAA
 3 a0005c0010t0001g0017
a0005c0010t0001g0019
a0008c0009t0001g0016
a0005c0010t0001g0017
a0005c0010t0001g0019
a0008c0009t0001g0016
 3 HG00099.hp2
HG00280.hp2
HG00639.hp1
HG00099.hp2
HG00280.hp2
HG00639.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(469): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGG
ATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACACA
others(826): Show 
CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA
AACACATACACACGCAGACACACACACACACACACAGTAAATACATCCCG
ACAGGGACAGACACACACACACAGACACACACACAGAGACACACACAAAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA
CACACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAG
ACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGA
CACAAACACATACACACGCAGACACACACACACACACAAACACACAGTAA
ATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA
ACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACA
CACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAC
ACACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC
GGCAGGGACACAAACACATACACACGCAGACACACACACACACACACACA
CACACTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGAC
ACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACACATACACA
CGCAGACACACACACACACACACACAAACAGTAAATACATCCCGACAGGG
ACAGACACAGACACAGACACAGAGACACACACAA
 1 a0006c0011t0003g0142
a0006c0011t0003g0142
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(833): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTCTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAG
TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTG
TGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTG
TGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTA
CTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCC
CTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATG
TGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGT
GTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTG
TGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACACA
others(188): Show 
CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC
ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACA
CAAACACATACACACGCAGACACACACACACACACACAAACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA
 1 a0002c0002t0001g0141
a0002c0002t0001g0141
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(195): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACACA
others(550): Show 
CACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACA
AACACATACACACGCAGACACACACACACACACAAACACACAGTAAATAC
ATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAGACACAC
ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAGACA
CACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAG
ACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACA
CACGCAGACACACACACACACACACACACACTAAATACATCCCGACAGGG
ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC
CCAGCATGGACACAAACACATACACACGCAGACACACACACACACACACA
AACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGAC
ACACACAA
 1 a0018c0030t0003g0102
a0018c0030t0003g0102
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(557): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
GGGATGTGTTTACTGTGTTTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCT
GTCGGGATGTATTTACTGTGTGTGTGTGTGTCTGCGTATGTGTTTGTGTC
CCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCT
GTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTG
TGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTT
TACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCG
GGATGTATTTAGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACACA
others(186): Show 
CACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACA
AACACATACACACGCAGACACACACACACACACACAAACAGTAAATACAT
CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA
 4 a0002c0005t0002g0006
a0003c0004t0001g0092
a0003c0004t0002g0093
others(1): Show 
a0002c0005t0002g0006
a0003c0004t0001g0092
a0003c0004t0002g0093
a0003c0004t0002g0095
 5 HG00639.hp2
HG01167.hp1
HG01361.hp1
others(2): Show 
HG00639.hp2
HG01167.hp1
HG01361.hp1
HG02300.hp1
NA19070.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(193): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACACA
others(60): Show 
CACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAA
 1 a0016c0021t0003g0082
a0016c0021t0003g0082
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.488-529_488-528ins
others(67): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACACA
others(704): Show 
CACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACAAACACACAGTAAATACAT
CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACAC
ACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACG
CAGACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACAC
ACACACACACAGACACATACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CACACACACTAAATACATCCCGACAGGGACAGACACAGACACACACACAG
AGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACACATA
CACACGCAGACACACACACACACACACAAACAGTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
AACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAG
AGACACACACAA
 2 a0014c0023t0001g0075
a0015c0022t0004g0103
a0014c0023t0001g0075
a0015c0022t0004g0103
 2 HG02486.hp1
HG02970.hp2
HG02486.hp1
HG02970.hp2
 intron_variant MODIFIER c.488-529_488-528ins
others(711): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTATGTGTCTGTGTGTGTGTGTGTCTGTCCCTGTCGGG
ATGTATTTACTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCT
CTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTT
TGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGA
TGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCC
CTGTCGGGATGTATTTAGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACACA
others(704): Show 
CACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACAAACACACAGTAAATACAT
CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACAC
ACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACG
CAGACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAC
ACACACACAGACACATACACAGAGACACACACAAACACAGTAAACACATC
CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA
CACACACTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAG
ACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACACATACA
CACGCAGACACACACACACACACACAAACAGTAAATACATCCCGACAGGG
ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC
CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA
AACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAG
AGACACACACAA
 1 a0001c0003t0001g0081
a0001c0003t0001g0081
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.488-529_488-528ins
others(711): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTATGTGTCTGTGTGTGTGTGTGTCTGTCCCTGTCG
GGATGTATTTACTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCT
CTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTT
TGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGA
TGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCC
CTGTCGGGATGTATTTAGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACACA
others(184): Show 
CACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACAAA
CACATACACACGCAGACACACACACACACACACAAACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAA
 11 a0002c0002t0001g0074
a0002c0034t0003g0073
a0003c0004t0001g0086
others(8): Show 
a0002c0002t0001g0074
a0002c0034t0003g0073
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0002g0080
a0003c0004t0002g0090
a0003c0004t0002g0096
a0003c0038t0001g0097
a0003c0039t0002g0094
a0011c0014t0001g0007
 12 HG01169.hp2
HG01515.hp1
HG01993.hp1
others(9): Show 
HG01169.hp2
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02080.hp1
HG02970.hp1
NA18949.hp2
NA18957.hp2
NA18991.hp2
NA18992.hp2
NA19011.hp1
NA19058.hp2
 intron_variant MODIFIER c.488-529_488-528ins
others(191): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315827 C
C
 CACACACA
others(180): Show 
CACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACAAACACA
TACACACGCAGACACACACACACACACACAAACAGTAAATACATCCCGAC
AGGGACAGACACAGACACACACACAGAGACACACACAA
 2 a0003c0004t0002g0088
a0003c0004t0002g0100
a0003c0004t0002g0088
a0003c0004t0002g0100
 2 NA19055.hp2
NA19064.hp1
NA19055.hp2
NA19064.hp1
 intron_variant MODIFIER c.488-529_488-528ins
others(187): Show 
c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315827
chrX:315828 A
A
 ACACAAAC
others(461): Show 
ACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACA
CACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAAC
ACATACACACGCAGACACACACACACACACACAAACACACAGTAAATACA
TCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACA
CACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACAC
GCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGACA
GACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACA
CACAGAGACACACACAAAC
 1 a0022c0033t0002g0140
a0022c0033t0002g0140
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.488-530_488-529ins
others(468): Show 
c.488-530_488-529insGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCG
GGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTG
TTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTG
TGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315828
chrX:315843 C
C
 G
G
 35 a0001c0003t0001g0072
a0002c0002t0001g0068
a0002c0002t0001g0109
others(32): Show 
a0001c0003t0001g0072
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0005t0001g0079
a0002c0005t0004g0076
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0002g0087
a0003c0004t0002g0099
a0004c0006t0001g0020
a0004c0006t0003g0013
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0012c0013t0001g0134
a0013c0016t0002g0009
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
 36 HG00099.hp2
HG00280.hp2
HG00639.hp1
others(33): Show 
HG00099.hp2
HG00280.hp2
HG00639.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01346.hp2
HG01361.hp2
HG02080.hp2
HG02109.hp1
HG02451.hp2
HG02717.hp1
HG02735.hp2
HG03130.hp2
HG03491.hp1
HG03834.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18993.hp2
NA19002.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-544G>C
c.488-544G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315843
chrX:315845 C
C
 T
T
 35 a0001c0003t0001g0072
a0002c0002t0001g0068
a0002c0002t0001g0109
others(32): Show 
a0001c0003t0001g0072
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0005t0001g0079
a0002c0005t0004g0076
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0002g0087
a0003c0004t0002g0099
a0004c0006t0001g0020
a0004c0006t0003g0013
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0012c0013t0001g0134
a0013c0016t0002g0009
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
 36 HG00099.hp2
HG00280.hp2
HG00639.hp1
others(33): Show 
HG00099.hp2
HG00280.hp2
HG00639.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01346.hp2
HG01361.hp2
HG02080.hp2
HG02109.hp1
HG02451.hp2
HG02717.hp1
HG02735.hp2
HG03130.hp2
HG03491.hp1
HG03834.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18993.hp2
NA19002.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-546G>A
c.488-546G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315845
chrX:315846 G
G
 A
A
 1 a0016c0021t0003g0082
a0016c0021t0003g0082
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.488-547C>T
c.488-547C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315846
chrX:315847 G
G
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-548C>T
c.488-548C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315847
chrX:315852 G
G
 GACAGAC
GACAGAC
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-554_488-553ins
others(6): Show 
c.488-554_488-553insGTCTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315852
chrX:315856 C
C
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-557G>C
c.488-557G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315856
chrX:315858 A
A
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-559T>G
c.488-559T>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315858
chrX:315864 T
T
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-565A>C
c.488-565A>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315864
chrX:315870 T
T
 C
C
 137 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(134): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0003g0061
a0001c0003t0003g0070
a0001c0003t0003g0107
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0029t0005g0077
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0019c0026t0001g0048
a0020c0025t0002g0051
a0022c0033t0002g0140
a0023c0035t0004g0147
a0024c0032t0001g0108
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
a0029c0015t0001g0008
 143 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(140): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19085.hp2
NA19089.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-571A>G
c.488-571A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315870
chrX:315871 G
G
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-572C>T
c.488-572C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315871
chrX:315874 G
G
 GAC
GAC
 30 a0001c0003t0001g0072
a0002c0002t0001g0068
a0002c0002t0001g0109
others(27): Show 
a0001c0003t0001g0072
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0005t0004g0076
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0002g0087
a0003c0004t0002g0099
a0004c0006t0001g0020
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0012c0013t0001g0134
a0013c0016t0002g0009
a0022c0033t0002g0140
a0026c0018t0002g0018
 31 HG00099.hp2
HG00280.hp2
HG00639.hp1
others(28): Show 
HG00099.hp2
HG00280.hp2
HG00639.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG02080.hp2
HG02109.hp1
HG02451.hp2
HG02735.hp2
HG03130.hp2
HG03491.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18993.hp2
NA19002.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-577_488-576dup
others(2): Show 
c.488-577_488-576dupGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315874
chrX:315874 G
G
 GACACAC
GACACAC
 3 a0002c0002t0001g0113
a0002c0005t0001g0079
a0012c0013t0001g0146
a0002c0002t0001g0113
a0002c0005t0001g0079
a0012c0013t0001g0146
 3 HG00099.hp1
HG02258.hp2
HG02717.hp1
HG00099.hp1
HG02258.hp2
HG02717.hp1
 intron_variant MODIFIER c.488-581_488-576dup
others(6): Show 
c.488-581_488-576dupGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315874
chrX:315874 G
G
 GACACACA
others(1): Show 
GACACACAC
 5 a0001c0003t0003g0112
a0002c0002t0001g0135
a0002c0034t0003g0073
others(2): Show 
a0001c0003t0003g0112
a0002c0002t0001g0135
a0002c0034t0003g0073
a0003c0004t0001g0086
a0003c0004t0001g0092
 5 HG02040.hp1
HG02970.hp1
NA18992.hp2
others(2): Show 
HG02040.hp1
HG02970.hp1
NA18992.hp2
NA19070.hp1
NA20129.hp2
 intron_variant MODIFIER c.488-583_488-576dup
others(8): Show 
c.488-583_488-576dupGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315874
chrX:315874 G
G
 GACACACA
others(3): Show 
GACACACACAC
 30 a0002c0002t0001g0074
a0002c0002t0001g0122
a0002c0002t0001g0124
others(27): Show 
a0002c0002t0001g0074
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0002g0080
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0011c0014t0001g0007
a0018c0030t0003g0102
 32 HG00408.hp1
HG00423.hp2
HG00558.hp1
others(29): Show 
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01346.hp1
HG01361.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02273.hp1
HG02300.hp1
HG03654.hp2
NA18942.hp1
NA18949.hp2
NA18957.hp2
NA18961.hp1
NA18967.hp1
NA18991.hp2
NA18992.hp1
NA19011.hp1
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19064.hp1
NA20129.hp1
 intron_variant MODIFIER c.488-585_488-576dup
others(10): Show 
c.488-585_488-576dupGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315874
chrX:315874 G
G
 GACACACA
others(5): Show 
GACACACACACAC
 3 a0004c0006t0003g0015
a0004c0007t0002g0014
a0029c0015t0001g0008
a0004c0006t0003g0015
a0004c0007t0002g0014
a0029c0015t0001g0008
 3 HG00140.hp2
HG00735.hp1
NA18964.hp1
HG00140.hp2
HG00735.hp1
NA18964.hp1
 intron_variant MODIFIER c.488-587_488-576dup
others(12): Show 
c.488-587_488-576dupGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315874
chrX:315874 G
G
 GACACACA
others(137): Show 
GACACACACACACACACACACACACACACAGTAAATACATCCCGACAGGG
ACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGTA
AACACATCCCGGCAGGGACACAAACATACACACGCAGACACACAC
 1 a0002c0002t0001g0110
a0002c0002t0001g0110
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.488-576_488-575ins
others(144): Show 
c.488-576_488-575insGTGTGTGTCTGCGTGTGTATGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGT
GTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315874
chrX:315874 GAC
GAC
 G
G
 51 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(48): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0002g0003
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0003g0061
a0001c0003t0003g0070
a0001c0003t0003g0107
a0004c0007t0002g0012
a0004c0007t0002g0025
a0010c0029t0005g0077
a0017c0028t0005g0078
a0019c0026t0001g0048
a0020c0025t0002g0051
a0023c0035t0004g0147
a0025c0020t0002g0026
a0028c0017t0002g0010
 54 HG00408.hp2
HG00558.hp2
HG00642.hp1
others(51): Show 
HG00408.hp2
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01175.hp2
HG02027.hp2
HG02155.hp2
HG03017.hp1
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18993.hp1
NA18994.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19011.hp2
NA19064.hp2
NA19077.hp2
NA19078.hp1
NA19080.hp1
NA19080.hp2
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.488-577_488-576del
others(2): Show 
c.488-577_488-576delGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315874
chrX:315884 C
C
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-585G>C
c.488-585G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315884
chrX:315886 C
C
 CACAA
CACAA
 7 a0001c0003t0001g0081
a0001c0003t0003g0145
a0006c0011t0003g0142
others(4): Show 
a0001c0003t0001g0081
a0001c0003t0003g0145
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0014c0023t0001g0075
a0015c0022t0004g0103
 7 HG02486.hp1
HG02615.hp2
HG02965.hp1
others(4): Show 
HG02486.hp1
HG02615.hp2
HG02965.hp1
HG02970.hp2
HG03579.hp2
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.488-588_488-587ins
others(4): Show 
c.488-588_488-587insTTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315886
chrX:315886 C
C
 CACACAA
CACACAA
 1 a0016c0021t0003g0082
a0016c0021t0003g0082
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.488-588_488-587ins
others(6): Show 
c.488-588_488-587insTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315886
chrX:315886 C
C
 CACACACA
others(1): Show 
CACACACAA
 1 a0024c0032t0001g0108
a0024c0032t0001g0108
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.488-588_488-587ins
others(8): Show 
c.488-588_488-587insTTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315886
chrX:315891 A
A
 T
T
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-592T>A
c.488-592T>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315891
chrX:315899 T
T
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-600A>G
c.488-600A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315899
chrX:315907 G
G
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-608C>T
c.488-608C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315907
chrX:315913 G
G
 GACAGAC
GACAGAC
 9 a0001c0003t0001g0081
a0001c0003t0003g0145
a0006c0011t0003g0142
others(6): Show 
a0001c0003t0001g0081
a0001c0003t0003g0145
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0024c0032t0001g0108
 9 HG01243.hp2
HG02486.hp1
HG02615.hp2
others(6): Show 
HG01243.hp2
HG02486.hp1
HG02615.hp2
HG02965.hp1
HG02970.hp2
HG03579.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.488-620_488-615dup
others(6): Show 
c.488-620_488-615dupGTCTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315913
chrX:315917 G
G
 GAC
GAC
 74 a0001c0003t0001g0072
a0001c0003t0003g0112
a0002c0002t0001g0068
others(71): Show 
a0001c0003t0001g0072
a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0018c0030t0003g0102
a0022c0033t0002g0140
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 77 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(74): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp1
HG03130.hp2
HG03491.hp1
HG03654.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-620_488-619dup
others(2): Show 
c.488-620_488-619dupGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315917
chrX:315917 GACACAC
GACACAC
 G
G
 1 a0004c0006t0003g0013
a0004c0006t0003g0013
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.488-624_488-619del
others(6): Show 
c.488-624_488-619delGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315917
chrX:315921 C
C
 CAG
CAG
 1 a0009c0012t0002g0042
a0009c0012t0002g0042
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.488-623_488-622ins
others(2): Show 
c.488-623_488-622insCT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315921
chrX:315923 C
C
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-624G>C
c.488-624G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315923
chrX:315925 CACAG
CACAG
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-630_488-627del
others(4): Show 
c.488-630_488-627delCTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315925
chrX:315931 C
C
 G
G
 11 a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0003g0145
others(8): Show 
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0003g0145
a0001c0024t0003g0106
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0024c0032t0001g0108
 11 HG01243.hp2
HG02486.hp1
HG02615.hp2
others(8): Show 
HG01243.hp2
HG02486.hp1
HG02615.hp2
HG02647.hp2
HG02965.hp1
HG02970.hp2
HG03579.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-632G>C
c.488-632G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315931
chrX:315933 C
C
 G
G
 1 a0009c0012t0002g0042
a0009c0012t0002g0042
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.488-634G>C
c.488-634G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315933
chrX:315935 T
T
 C
C
 85 a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0003g0112
others(82): Show 
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0003g0112
a0001c0003t0003g0145
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0009c0012t0002g0042
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0018c0030t0003g0102
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 88 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(85): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-636A>G
c.488-636A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315935
chrX:315936 A
A
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-637T>C
c.488-637T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315936
chrX:315938 A
A
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-639T>C
c.488-639T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315938
chrX:315943 G
G
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-644C>G
c.488-644C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315943
chrX:315949 C
C
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-650G>C
c.488-650G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315949
chrX:315953 A
A
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-654T>G
c.488-654T>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315953
chrX:315959 G
G
 GA
GA
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-661_488-660ins
others(1): Show 
c.488-661_488-660insT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315959
chrX:315960 T
T
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-661A>C
c.488-661A>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315960
chrX:315962 A
A
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-663T>C
c.488-663T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315962
chrX:315968 T
T
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-669A>G
c.488-669A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315968
chrX:315969 C
C
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-670G>T
c.488-670G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315969
chrX:315969 C
C
 G
G
 9 a0001c0003t0001g0081
a0001c0003t0003g0145
a0006c0011t0003g0142
others(6): Show 
a0001c0003t0001g0081
a0001c0003t0003g0145
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0024c0032t0001g0108
 9 HG01243.hp2
HG02486.hp1
HG02615.hp2
others(6): Show 
HG01243.hp2
HG02486.hp1
HG02615.hp2
HG02965.hp1
HG02970.hp2
HG03579.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.488-670G>C
c.488-670G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315969
chrX:315971 C
C
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-672G>T
c.488-672G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315971
chrX:315971 C
C
 T
T
 9 a0001c0003t0001g0081
a0001c0003t0003g0145
a0006c0011t0003g0142
others(6): Show 
a0001c0003t0001g0081
a0001c0003t0003g0145
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0024c0032t0001g0108
 9 HG01243.hp2
HG02486.hp1
HG02615.hp2
others(6): Show 
HG01243.hp2
HG02486.hp1
HG02615.hp2
HG02965.hp1
HG02970.hp2
HG03579.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.488-672G>A
c.488-672G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315971
chrX:315972 G
G
 A
A
 6 a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
others(3): Show 
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0010c0031t0005g0104
a0021c0027t0004g0083
 6 HG00741.hp2
HG02055.hp1
HG02109.hp2
others(3): Show 
HG00741.hp2
HG02055.hp1
HG02109.hp2
HG02451.hp1
HG02615.hp1
NA18906.hp1
 intron_variant MODIFIER c.488-673C>T
c.488-673C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315972
chrX:315972 G
G
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-673C>G
c.488-673C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315972
chrX:315973 G
G
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-674C>T
c.488-674C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315973
chrX:315977 G
G
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-678C>T
c.488-678C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315977
chrX:315984 A
A
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-685T>G
c.488-685T>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315984
chrX:315984 AAC
AAC
 A
A
 40 a0001c0003t0003g0112
a0002c0002t0001g0074
a0002c0002t0001g0113
others(37): Show 
a0001c0003t0003g0112
a0002c0002t0001g0074
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0034t0003g0073
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0003g0015
a0004c0007t0002g0014
a0011c0014t0001g0007
a0012c0013t0001g0146
a0018c0030t0003g0102
a0029c0015t0001g0008
 42 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(39): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01346.hp1
HG01361.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02970.hp1
HG03654.hp2
NA18942.hp1
NA18949.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18967.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA19011.hp1
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.488-687_488-686del
others(2): Show 
c.488-687_488-686delGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315984
chrX:315988 C
C
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-689G>C
c.488-689G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315988
chrX:315989 A
A
 T
T
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-690T>A
c.488-690T>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315989
chrX:315990 T
T
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-691A>T
c.488-691A>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315990
chrX:315996 C
C
 T
T
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-697G>A
c.488-697G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315996
chrX:315997 G
G
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-698C>G
c.488-698C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315997
chrX:315999 A
A
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-700T>G
c.488-700T>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 315999
chrX:316000 G
G
 GAC
GAC
 2 a0001c0001t0002g0044
a0001c0003t0003g0107
a0001c0001t0002g0044
a0001c0003t0003g0107
 2 HG01123.hp1
NA19078.hp1
HG01123.hp1
NA19078.hp1
 intron_variant MODIFIER c.488-703_488-702dup
others(2): Show 
c.488-703_488-702dupGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACAC
GACAC
 2 a0010c0031t0005g0104
a0024c0032t0001g0108
a0010c0031t0005g0104
a0024c0032t0001g0108
 2 HG03834.hp2
NA18906.hp1
HG03834.hp2
NA18906.hp1
 intron_variant MODIFIER c.488-705_488-702dup
others(4): Show 
c.488-705_488-702dupGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACAC
GACACAC
 14 a0002c0002t0001g0074
a0002c0002t0001g0136
a0002c0002t0001g0139
others(11): Show 
a0002c0002t0001g0074
a0002c0002t0001g0136
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0005t0002g0006
a0003c0004t0002g0080
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0039t0002g0094
a0004c0006t0003g0015
a0004c0007t0002g0014
a0012c0013t0001g0146
a0029c0015t0001g0008
 15 HG00140.hp2
HG00423.hp2
HG00639.hp2
others(12): Show 
HG00140.hp2
HG00423.hp2
HG00639.hp2
HG00735.hp1
HG01167.hp1
HG01169.hp2
HG01361.hp1
HG01515.hp1
HG01993.hp2
HG02258.hp2
HG02300.hp1
HG03654.hp2
NA18964.hp1
NA18967.hp1
NA18991.hp2
 intron_variant MODIFIER c.488-707_488-702dup
others(6): Show 
c.488-707_488-702dupGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(1): Show 
GACACACAC
 25 a0001c0003t0003g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
others(22): Show 
a0001c0003t0003g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0135
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0002g0125
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0100
a0003c0038t0001g0097
a0011c0014t0001g0007
a0018c0030t0003g0102
 26 HG00099.hp1
HG00408.hp1
HG00558.hp1
others(23): Show 
HG00099.hp1
HG00408.hp1
HG00558.hp1
HG00733.hp2
HG01175.hp1
HG01346.hp1
HG01993.hp1
HG02040.hp1
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02273.hp1
NA18942.hp1
NA18949.hp2
NA18957.hp2
NA18961.hp1
NA18992.hp1
NA18992.hp2
NA19011.hp1
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.488-709_488-702dup
others(8): Show 
c.488-709_488-702dupGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(5): Show 
GACACACACACAC
 1 a0004c0006t0003g0013
a0004c0006t0003g0013
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.488-713_488-702dup
others(12): Show 
c.488-713_488-702dupGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(259): Show 
GACACACACACACACACACACACACACACACACACTAAATACATCCCGAC
AGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACA
CATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAG
ACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACA
CAAACACATACGCAGAC
 1 a0027c0040t0002g0148
a0027c0040t0002g0148
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.488-702_488-701ins
others(266): Show 
c.488-702_488-701insGTCTGCGTATGTGTTTGTGTCCCTGCCAGC
ATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTG
TGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGT
GTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATT
TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(649): Show 
GACACACACACACACACACACACACACACACACACTAAATACATCCCGAC
AGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACA
CATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAG
ACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACA
CAAACACATACGCAGACACACACACACACACACACAGTAAATACATCCCG
ACAGGGACAGACACACACACACAGACACACACACAGAGACACACACAAAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA
CACACACACACACACACACACACTAAATACATCCCGACAGGGACAGACAC
AGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATG
GACACAAACACATACACACGCAGACACACACACACACACACAAACAGTAA
ATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA
ACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACA
CACACAC
 1 a0007c0008t0001g0023
a0007c0008t0001g0023
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.488-702_488-701ins
others(656): Show 
c.488-702_488-701insGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTAC
TGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCC
TGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGT
GTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTC
TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGT
GTGTGTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(649): Show 
GACACACACACACACACACACACACACACACACACTAAATACATCCCGAC
AGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACA
CATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAG
ACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACA
CAAACACATACGCAGACACACACACACACACACACAGTAAATACATCCCG
ACAGGGACAGACACACACACACAGACACACACACAGAGACACACACAAAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA
CACACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAG
ACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGA
CACAAACACATACACACGCAGACACACACACACACACACAAACAGTAAAT
ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA
CACACAC
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.488-702_488-701ins
others(656): Show 
c.488-702_488-701insGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG
TATTTAGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTAC
TGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCC
TGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGT
GTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTC
TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGT
GTGTGTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(649): Show 
GACACACACACACACACACACACACACACACACTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
AACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGAC
ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA
AACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACACACTAAATACATCCCGACAGGGACAGACAC
AGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATG
GACACAAACACATACACACGCAGACACACACACACACACACAAACAGTAA
ATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAA
ACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACA
CACACAC
 2 a0013c0016t0002g0009
a0022c0033t0002g0140
a0013c0016t0002g0009
a0022c0033t0002g0140
 2 NA18973.hp1
NA19078.hp2
NA18973.hp1
NA19078.hp2
 intron_variant MODIFIER c.488-702_488-701ins
others(656): Show 
c.488-702_488-701insGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGT
TTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT
GTGTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGT
GTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTG
TCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGT
GTGTGTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(647): Show 
GACACACACACACACACACACACACACACACACTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
AACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGAC
ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA
AACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAG
ACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGA
CACAAACACATACACACGCAGACACACACACACACACACAAACAGTAAAT
ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA
CACAC
 4 a0004c0006t0001g0020
a0005c0019t0001g0022
a0007c0008t0001g0011
others(1): Show 
a0004c0006t0001g0020
a0005c0019t0001g0022
a0007c0008t0001g0011
a0008c0009t0001g0016
 4 HG00639.hp1
HG02735.hp2
NA18941.hp1
others(1): Show 
HG00639.hp1
HG02735.hp2
NA18941.hp1
NA18942.hp2
 intron_variant MODIFIER c.488-702_488-701ins
others(654): Show 
c.488-702_488-701insGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTAC
TGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCC
TGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGT
GTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTC
TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGT
GTGTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(649): Show 
GACACACACACACACACACACACACACACACACTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
AACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGAC
ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA
AACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAG
ACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGA
CACAAACACATACACACGCAGACACACACACACACACACAAACAGTAAAT
ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA
CACACAC
 1 a0012c0013t0001g0134
a0012c0013t0001g0134
 1 NA19082.hp1
NA19082.hp1
 intron_variant MODIFIER c.488-702_488-701ins
others(656): Show 
c.488-702_488-701insGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG
TATTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGT
TTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT
GTGTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGT
GTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTG
TCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGT
GTGTGTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(785): Show 
GACACACACACACACACACACACACACACACACTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
AACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGAC
ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA
AACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAG
ACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGA
CACAAACACATACACACGCAGACACACACACACACACACAAACAGTAAAT
ACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAAC
ACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACA
CACACACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACATACACACGCAGACACACAC
 2 a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0017
a0005c0010t0001g0019
 2 HG00099.hp2
HG00280.hp2
HG00099.hp2
HG00280.hp2
 intron_variant MODIFIER c.488-702_488-701ins
others(792): Show 
c.488-702_488-701insGTGTGTGTCTGCGTGTGTATGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGT
GTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGG
ATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGT
GTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGTGTGTC
TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGT
GTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCG
GGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTG
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGT
CTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTA
TTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGT
GTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(645): Show 
GACACACACACACACACACACACACACACACACTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
AACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGAC
ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA
AACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC
ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACA
CAAACACATACACACGCAGACACACACACACACACACAAACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CAC
 7 a0002c0002t0001g0068
a0002c0002t0001g0115
a0002c0002t0001g0116
others(4): Show 
a0002c0002t0001g0068
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
 7 NA18950.hp2
NA18956.hp2
NA18964.hp2
others(4): Show 
NA18950.hp2
NA18956.hp2
NA18964.hp2
NA18977.hp2
NA19002.hp2
NA19057.hp1
NA19081.hp1
 intron_variant MODIFIER c.488-702_488-701ins
others(652): Show 
c.488-702_488-701insGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTAGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT
GTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTG
TCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGT
GTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(781): Show 
GACACACACACACACACACACACACACACACACTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
AACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGAC
ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA
AACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC
ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACA
CAAACACATACACACGCAGACACACACACACACACACAAACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGAC
ACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACATACACACGCAGACACACAC
 1 a0002c0002t0001g0109
a0002c0002t0001g0109
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.488-702_488-701ins
others(788): Show 
c.488-702_488-701insGTGTGTGTCTGCGTGTGTATGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGT
GTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCC
TGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGT
GTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGC
GTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTC
TCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTA
CTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGT
GTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(781): Show 
GACACACACACACACACACACACACACACACACTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
AACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGAC
ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA
AACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC
ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACA
CAAACACATACACACGCAGACACACACACACACACACAAACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACAC
ACACACACAGACACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACATACACACGCAGACACACAC
 1 a0002c0002t0001g0132
a0002c0002t0001g0132
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-702_488-701ins
others(788): Show 
c.488-702_488-701insGTGTGTGTCTGCGTGTGTATGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTGTC
TGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGT
GTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCC
TGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGT
GTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGC
GTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTC
TCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTA
CTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGT
GTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(779): Show 
GACACACACACACACACACACACACACACACACTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
AACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGAC
ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA
AACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC
ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACA
CAAACACATACACACGCAGACACACACACACACACACAAACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAC
ACACACAGACACACACACACAGAGACACACACAAACACAGTAAACACATC
CCGGCAGGGACACAAACATACACACGCAGACACACAC
 1 a0002c0002t0001g0131
a0002c0002t0001g0131
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.488-702_488-701ins
others(786): Show 
c.488-702_488-701insGTGTGTGTCTGCGTGTGTATGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTGTC
TGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGT
GTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGT
GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTG
TCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTAT
GTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTG
TGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGT
GTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGT
GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTC
TGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGCGT
ATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT
GTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTGT
GTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(913): Show 
GACACACACACACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACA
TACACACGCAGACACACACACACACACACAAACACACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACAC
ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCA
GACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGAC
ACAGACACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCA
GGGACACAAACACATACACACGCAGACACACACACACACACACAAACACA
CAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACACACGCAGACACACACACACACACACACACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTA
AACACATGCTGGCAGGGACACAAACACATACACACGCAGACACACACACA
CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACA
AACACATACACACGCAGACAC
 1 a0002c0005t0001g0079
a0002c0005t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.488-702_488-701ins
others(920): Show 
c.488-702_488-701insGTGTCTGCGTGTGTATGTGTTTGTGTTCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT
GTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATT
TACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTG
TGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGT
GTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCC
TGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATT
TACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGT
GTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTAC
TGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(645): Show 
GACACACACACACACACACACACACACACACTAAATACATCCCGACAGGG
ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC
CCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACAAA
CACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACGCAGACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACACACACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA
CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC
ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACA
CAAACACATACACACGCAGACACACACACACACACACAAACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CAC
 2 a0002c0037t0003g0133
a0007c0008t0001g0021
a0002c0037t0003g0133
a0007c0008t0001g0021
 2 HG00735.hp2
NA19057.hp2
HG00735.hp2
NA19057.hp2
 intron_variant MODIFIER c.488-702_488-701ins
others(652): Show 
c.488-702_488-701insGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTAC
TGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCC
TGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGT
GTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTC
TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGT
GTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(647): Show 
GACACACACACACACACACACACACACACACTAAATACATCCCGACAGGG
ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC
CCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACAAA
CACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACGCAGACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACACACACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA
CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC
ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACA
CAAACACATACACACGCAGACACACACACACACACACAAACAGTAAATAC
ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACAC
AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA
CACAC
 1 a0005c0010t0001g0024
a0005c0010t0001g0024
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.488-702_488-701ins
others(654): Show 
c.488-702_488-701insGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG
TATTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGT
TTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT
GTGTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGT
GTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTG
TCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGT
GTGTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(643): Show 
GACACACACACACACACACACACACACACACTAAATACATCCCGACAGGG
ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC
CCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACAAA
CACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACGCAGACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACACACACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA
CACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACAC
ACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACA
AACACATACACACGCAGACACACACACACACACACAAACAGTAAATACAT
CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA
C
 1 a0002c0036t0001g0071
a0002c0036t0001g0071
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.488-702_488-701ins
others(650): Show 
c.488-702_488-701insGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTAGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT
GTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTG
TCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGT
GTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(1805): Show 
GACACACACACACACACACACACACACACACTAAATACATCCCGACAGGG
ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC
CCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACAAA
CACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA
CACATACGCAGACACACACACACACAGTAAATACATCCCGACAGGGACAG
ACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACA
CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA
CACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACAC
ACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACAAACA
CATACACACGCAGACACACACACACACACACAAACAGTAAATACATCCCG
ACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACAC
ACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCA
GGGACACAAACATACACACGCAGACACACACACACACACACACACACACA
GTAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACAG
AGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATA
CACACGCAGACACACACACACACACAAACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC
GGCAGGAACACAAACACATACATACGCAGACACACACACACACACACACA
CTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACAC
ACAAACACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCA
GACACACACACACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACACACGCAGACACACACACACACACACACACACACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACAC
ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCA
GACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGAC
ACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACACACGCAGAC
 1 a0003c0004t0002g0087
a0003c0004t0002g0087
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.488-702_488-701ins
others(1812): Show 
c.488-702_488-701insGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTC
TGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGA
TGTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTC
TGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGT
GTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT
GTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGT
GTGTGTGTGTCTGCGTGTGTATGTTTGTGTCCCTGCCGGGATGTGTTTAC
TGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCC
TGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGC
GTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGT
TTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTG
GGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTG
TCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCT
GCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTG
TGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATG
TATTTACTGTGTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGC
ATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTG
TGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGT
GTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATT
TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(1805): Show 
GACACACACACACACACACACACACACACACTAAATACATCCCGACAGGG
ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC
CCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACAAA
CACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACAC
ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGGACACAA
AACATACGCAGACACACACACACACAGTAAATACATCCCGACAGGGACAG
ACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACA
CATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACA
CACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACAC
ACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACAAACA
CATACACACGCAGACACACACACACACACACAAACAGTAAATACATCCCG
ACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACAC
ACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCA
GGGACACAAACATACACACGCAGACACACACACACACACACACACACACA
GTAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACAG
AGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATA
CACACGCAGACACACACACACACACAAACACACAGTAAATACATCCCGAC
AGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC
GGCAGGAACACAAACACATACATACGCAGACACACACACACACACACACA
CTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACAC
ACAAACACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCA
GACACACACACACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACACACGCAGACACACACACACACACACACACACACAGTAAATACATCC
CGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACAC
ACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCA
GACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGAC
ACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACA
TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA
CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC
AGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACA
TACACACGCAGAC
 1 a0003c0004t0002g0099
a0003c0004t0002g0099
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.488-702_488-701ins
others(1812): Show 
c.488-702_488-701insGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTC
TGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGA
TGTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTC
TGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGT
GTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT
GTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGT
GTGTGTGTGTCTGCGTGTGTATGTTTGTGTCCCTGCCGGGATGTGTTTAC
TGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCC
TGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGC
GTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGT
TTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTG
GGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTG
TCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCT
GCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTG
TGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATG
TATTTACTGTGTGTGTGTGTGTCTGCGTATGTTTTGTGTCCCCTGCCAGC
ATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTG
TGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGT
GTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATT
TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 G
G
 GACACACA
others(3): Show 
GACACACACCC
 1 a0002c0034t0003g0073
a0002c0034t0003g0073
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.488-702_488-701ins
others(10): Show 
c.488-702_488-701insGGGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316000 GAC
GAC
 G
G
 1 a0001c0003t0003g0070
a0001c0003t0003g0070
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.488-703_488-702del
others(2): Show 
c.488-703_488-702delGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316000
chrX:316004 C
C
 CACACACA
others(245): Show 
CACACACACACACACACACACACTAAATACATCCCGACAGGGACAGACAC
AGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGG
GACACAAACACATACACACGCAGACACACACACACACACAAACACACAGT
AAATACATCCCGACAGGGACAGACACACACACACAGAGACACACACAGAG
ACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACG
CAG
 1 a0008c0009t0001g0001
a0008c0009t0001g0001
 2 HG02109.hp1
HG02451.hp2
HG02109.hp1
HG02451.hp2
 intron_variant MODIFIER c.488-706_488-705ins
others(252): Show 
c.488-706_488-705insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
GTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316004
chrX:316004 C
C
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-705G>C
c.488-705G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316004
chrX:316005 A
A
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-706T>C
c.488-706T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316005
chrX:316006 C
C
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-707G>C
c.488-707G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316006
chrX:316010 C
C
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-711G>C
c.488-711G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316010
chrX:316012 C
C
 CACACAA
CACACAA
 1 a0002c0002t0001g0110
a0002c0002t0001g0110
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.488-714_488-713ins
others(6): Show 
c.488-714_488-713insTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316012
chrX:316012 C
C
 CACACACA
others(1): Show 
CACACACAA
 2 a0002c0002t0001g0114
a0002c0005t0004g0076
a0002c0002t0001g0114
a0002c0005t0004g0076
 2 HG01123.hp2
NA18906.hp2
HG01123.hp2
NA18906.hp2
 intron_variant MODIFIER c.488-714_488-713ins
others(8): Show 
c.488-714_488-713insTTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316012
chrX:316012 C
C
 CACACACA
others(3): Show 
CACACACACAA
 1 a0001c0003t0001g0072
a0001c0003t0001g0072
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.488-714_488-713ins
others(10): Show 
c.488-714_488-713insTTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316012
chrX:316016 CACAGTAA
others(56): Show 
CACAGTAAATACATCCCGACAGGGACAGACACACACACAGACACATACAC
AGAGACACACACAA
 C
C
 3 a0001c0003t0002g0084
a0001c0003t0002g0085
a0021c0027t0004g0083
a0001c0003t0002g0084
a0001c0003t0002g0085
a0021c0027t0004g0083
 3 HG02109.hp2
HG02451.hp1
HG02615.hp1
HG02109.hp2
HG02451.hp1
HG02615.hp1
 intron_variant MODIFIER c.488-780_488-718del
others(63): Show 
c.488-780_488-718delTTGTGTGTGTCTCTGTGTATGTGTCTGTGT
GTGTGTCTGTCCCTGTCGGGATGTATTTACTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316016
chrX:316018 CAGTAAAT
others(54): Show 
CAGTAAATACATCCCGACAGGGACAGACACACACACAGACACATACACAG
AGACACACACAA
 C
C
 2 a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0002g0101
a0001c0003t0003g0028
 2 HG00741.hp2
HG02055.hp1
HG00741.hp2
HG02055.hp1
 intron_variant MODIFIER c.488-780_488-720del
others(61): Show 
c.488-780_488-720delTTGTGTGTGTCTCTGTGTATGTGTCTGTGT
GTGTGTCTGTCCCTGTCGGGATGTATTTACT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316018
chrX:316020 G
G
 C
C
 1 a0002c0005t0001g0079
a0002c0005t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.488-721C>G
c.488-721C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316020
chrX:316025 T
T
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-726A>G
c.488-726A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316025
chrX:316033 G
G
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-734C>T
c.488-734C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316033
chrX:316039 G
G
 GACAGAC
GACAGAC
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.488-746_488-741dup
others(6): Show 
c.488-746_488-741dupGTCTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316039
chrX:316040 A
A
 ACG
ACG
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-742_488-741ins
others(2): Show 
c.488-742_488-741insCG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316040
chrX:316043 G
G
 C
C
 3 a0004c0006t0003g0015
a0004c0007t0002g0014
a0029c0015t0001g0008
a0004c0006t0003g0015
a0004c0007t0002g0014
a0029c0015t0001g0008
 3 HG00140.hp2
HG00735.hp1
NA18964.hp1
HG00140.hp2
HG00735.hp1
NA18964.hp1
 intron_variant MODIFIER c.488-744C>G
c.488-744C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316043
chrX:316043 G
G
 GAC
GAC
 68 a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0074
others(65): Show 
a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0113
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0018c0030t0003g0102
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
 71 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(68): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG01071.hp1
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp1
HG03130.hp2
HG03491.hp1
HG03654.hp2
HG03834.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-746_488-745dup
others(2): Show 
c.488-746_488-745dupGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316043
chrX:316043 G
G
 GACAC
GACAC
 7 a0001c0003t0001g0081
a0001c0003t0003g0145
a0006c0011t0003g0142
others(4): Show 
a0001c0003t0001g0081
a0001c0003t0003g0145
a0006c0011t0003g0142
a0006c0011t0003g0143
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
 7 HG01243.hp2
HG02486.hp1
HG02615.hp2
others(4): Show 
HG01243.hp2
HG02486.hp1
HG02615.hp2
HG02965.hp1
HG02970.hp2
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.488-748_488-745dup
others(4): Show 
c.488-748_488-745dupGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316043
chrX:316043 GACACAC
GACACAC
 G
G
 1 a0001c0003t0001g0072
a0001c0003t0001g0072
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.488-750_488-745del
others(6): Show 
c.488-750_488-745delGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316043
chrX:316045 C
C
 CACAGACA
others(1401): Show 
CACAGACACACACACAGAGACACACACAAACACAGTAAACACATGCTGGC
AGGGACACAAACACATACACACGCAGACACACACACACACACACACAGTA
AATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACACA
GAGACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGG
ACACAAACACATACGCAGACACACACACACACACACACAGTAAATACATC
CCGACAGGGACAGACACACACACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACACACACACTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCAT
GGACACAAACACATACACACGCAGACACACACACACACACACAAACAGTA
AATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGA
CACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACAC
ATCCCGGCAGGGACACAAACATACACACGCAGACACACACACACACACAC
ACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC
AAACACATACACACGCAGACACACACACACACACAAACACACAGTAAATA
CATCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCGGCAGGAACACAAACACATACATACGCAGACACACACACAC
ACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACACACA
GAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACACAT
ACACACGCAGACACACACACACACACACACACACACACAGTAAATACATC
CCGACAGGG
 1 a0002c0002t0001g0114
a0002c0002t0001g0114
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.488-747_488-746ins
others(1408): Show 
c.488-747_488-746insCCCTGTCGGGATGTATTTACTGTGTGTGTG
TGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGG
GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGT
CCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATG
TATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCT
CTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTG
TGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTT
TACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGT
CCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTCTG
CGTGTGTATGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTAT
TTACTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTG
TGTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGT
ATTTAGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTG
TGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCT
GTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTG
TATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCT
CTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316045
chrX:316047 C
C
 T
T
 1 a0001c0003t0001g0031
a0001c0003t0001g0031
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.488-748G>A
c.488-748G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316047
chrX:316049 C
C
 CACACACA
others(505): Show 
CACACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGGACACAAACATACACACGCAGACACACACACACACACACACAC
ACACAGTAAATACATCCCGACAGGGACACACACACACAGACACACACACA
GAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACATAC
ACACGCAGACACACACACACACACACACACACAGTAAATACATCCCGACA
GGGACAGACACACACACACAGACACACACACAGAGACACACACAAACACA
GTAAACACATCCCGGCAGGAACACAAACACATACATACGCAGACACACAC
ACACACACACACACTAAATACATCCCGACAGGGACACAGACACACACACA
GAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACACAT
ACACACGCAGACACACACACACACACACACACACACACAGTAAATACATC
CCGACAGGGACAG
 1 a0004c0006t0003g0013
a0004c0006t0003g0013
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.488-751_488-750ins
others(512): Show 
c.488-751_488-750insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATG
TATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCT
CTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTG
TGTGTCTGCGTGTGTATGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316049
chrX:316049 C
C
 CACACAGA
others(233): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACAGTAAATACATCCCGACAGGGACAG
 1 a0002c0002t0001g0110
a0002c0002t0001g0110
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.488-751_488-750ins
others(240): Show 
c.488-751_488-750insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCG
TATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316049
chrX:316049 C
C
 CACAGACA
others(373): Show 
CACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGC
AGGGACACAAACATACACACGCAGACACACACACACACACACACACACAC
AGTAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACA
GAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACAT
ACATACGCAGACACACACACACACACACACACTAAATACATCCCGACAGG
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCA
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACACACAGTAAATACATCCCGACAGGGACAG
 1 a0004c0007t0002g0014
a0004c0007t0002g0014
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.488-751_488-750ins
others(380): Show 
c.488-751_488-750insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATG
TATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCT
CTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTTTGTGTCCC
TGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316049
chrX:316049 C
C
 CACAGACA
others(371): Show 
CACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGC
AGGGACACAAACATACACACGCAGACACACACACACACACACACACACAG
TAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACATAC
ATACGCAGACACACACACACACACACACACTAAATACATCCCGACAGGGA
CACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGC
AGGGACACAAACACATACACACGCAGACACACACACACACACACACACAC
ACACAGTAAATACATCCCGACAGGGACAG
 2 a0004c0006t0003g0015
a0029c0015t0001g0008
a0004c0006t0003g0015
a0029c0015t0001g0008
 2 HG00140.hp2
NA18964.hp1
HG00140.hp2
NA18964.hp1
 intron_variant MODIFIER c.488-751_488-750ins
others(378): Show 
c.488-751_488-750insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATG
TATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCT
CTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316049
chrX:316049 C
C
 G
G
 1 a0002c0002t0001g0114
a0002c0002t0001g0114
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.488-750G>C
c.488-750G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316049
chrX:316055 G
G
 T
T
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-756C>A
c.488-756C>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316055
chrX:316056 A
A
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-757T>C
c.488-757T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316056
chrX:316057 C
C
 G
G
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.488-758G>C
c.488-758G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316057
chrX:316059 C
C
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-760G>C
c.488-760G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316059
chrX:316061 T
T
 C
C
 79 a0001c0003t0001g0072
a0001c0003t0001g0105
a0001c0003t0003g0112
others(76): Show 
a0001c0003t0001g0072
a0001c0003t0001g0105
a0001c0003t0003g0112
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0018c0030t0003g0102
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 82 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp1
HG03130.hp2
HG03491.hp1
HG03654.hp2
HG03834.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-762A>G
c.488-762A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316061
chrX:316073 CACACAA
CACACAA
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-780_488-775del
others(6): Show 
c.488-780_488-775delTTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316073
chrX:316095 C
C
 G
G
 2 a0001c0003t0001g0072
a0002c0005t0004g0076
a0001c0003t0001g0072
a0002c0005t0004g0076
 2 HG00741.hp1
NA18906.hp2
HG00741.hp1
NA18906.hp2
 intron_variant MODIFIER c.488-796G>C
c.488-796G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316095
chrX:316097 C
C
 T
T
 2 a0001c0003t0001g0072
a0002c0005t0004g0076
a0001c0003t0001g0072
a0002c0005t0004g0076
 2 HG00741.hp1
NA18906.hp2
HG00741.hp1
NA18906.hp2
 intron_variant MODIFIER c.488-798G>A
c.488-798G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316097
chrX:316099 G
G
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-800C>T
c.488-800C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316099
chrX:316104 G
G
 A
A
 2 a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0131
a0002c0002t0001g0132
 2 HG03491.hp1
homoSapiens_chm13v2.hp1
HG03491.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.488-805C>T
c.488-805C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316104
chrX:316104 GAC
GAC
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.488-807_488-806del
others(2): Show 
c.488-807_488-806delGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316104
chrX:316110 A
A
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+804T>C
c.487+804T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316110
chrX:316110 AAC
AAC
 A
A
 20 a0002c0002t0001g0068
a0002c0002t0001g0115
a0002c0002t0001g0116
others(17): Show 
a0002c0002t0001g0068
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0036t0001g0071
a0002c0037t0003g0133
a0004c0006t0001g0020
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0016
a0012c0013t0001g0134
a0013c0016t0002g0009
a0022c0033t0002g0140
a0026c0018t0002g0018
 20 HG00639.hp1
HG00735.hp2
HG02080.hp2
others(17): Show 
HG00639.hp1
HG00735.hp2
HG02080.hp2
HG02735.hp2
HG03130.hp2
NA18941.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA19002.hp2
NA19057.hp1
NA19057.hp2
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
 intron_variant MODIFIER c.487+802_487+803del
others(2): Show 
c.487+802_487+803delGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316110
chrX:316112 C
C
 CACACACG
others(3): Show 
CACACACGCAG
 1 a0010c0031t0005g0104
a0010c0031t0005g0104
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.487+801_487+802ins
others(10): Show 
c.487+801_487+802insCTGCGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316112
chrX:316116 T
T
 C
C
 1 a0010c0031t0005g0104
a0010c0031t0005g0104
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.487+798A>G
c.487+798A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316116
chrX:316116 T
T
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+798A>C
c.487+798A>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316116
chrX:316119 ACACG
ACACG
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+791_487+794del
others(4): Show 
c.487+791_487+794delCGTG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316119
chrX:316122 C
C
 T
T
 1 a0002c0005t0002g0121
a0002c0005t0002g0121
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.487+792G>A
c.487+792G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316122
chrX:316126 G
G
 GAC
GAC
 3 a0002c0002t0001g0110
a0002c0002t0001g0114
a0002c0005t0004g0076
a0002c0002t0001g0110
a0002c0002t0001g0114
a0002c0005t0004g0076
 3 HG01123.hp2
HG01433.hp1
NA18906.hp2
HG01123.hp2
HG01433.hp1
NA18906.hp2
 intron_variant MODIFIER c.487+786_487+787dup
others(2): Show 
c.487+786_487+787dupGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316126
chrX:316126 G
G
 GACAC
GACAC
 3 a0002c0002t0001g0115
a0004c0006t0001g0020
a0016c0021t0003g0082
a0002c0002t0001g0115
a0004c0006t0001g0020
a0016c0021t0003g0082
 3 HG01243.hp2
NA18942.hp2
NA19057.hp1
HG01243.hp2
NA18942.hp2
NA19057.hp1
 intron_variant MODIFIER c.487+784_487+787dup
others(4): Show 
c.487+784_487+787dupGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316126
chrX:316126 G
G
 GACACAC
GACACAC
 18 a0002c0002t0001g0068
a0002c0002t0001g0116
a0002c0002t0001g0117
others(15): Show 
a0002c0002t0001g0068
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0036t0001g0071
a0002c0037t0003g0133
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0016
a0012c0013t0001g0134
a0013c0016t0002g0009
a0022c0033t0002g0140
a0026c0018t0002g0018
 18 HG00639.hp1
HG00735.hp2
HG02080.hp2
others(15): Show 
HG00639.hp1
HG00735.hp2
HG02080.hp2
HG02735.hp2
HG03130.hp2
NA18941.hp1
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA19002.hp2
NA19057.hp2
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
 intron_variant MODIFIER c.487+782_487+787dup
others(6): Show 
c.487+782_487+787dupGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316126
chrX:316126 G
G
 GACACACA
others(1037): Show 
GACACACACACACACACACAAACACACAGTAAATACATCCCGACAGGGAC
AGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATGCT
GGCAGGGACACAAACACATACACACGCAGACACACACACACACACACACA
GTAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACAG
AGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATA
CACACGCAGACACACACACACACACACACACACACACACACTAAATACAT
CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCAACAGGGACACAAACACATACACACGCAGACACACACA
CACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACAC
ACAGAGACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCA
GGGACACAAACACATACGCAGACACACACACACACACACACAGTAAATAC
ATCCCGACAGGGACAGACACACACACACAGACACACACACAGAGACACAC
ACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCA
GACACACACACACACACACACACACACTAAATACATCCCGACAGGGACAG
ACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAG
CATGGACACAAACACATACACACGCAGACACACACACACACACACACAAA
CAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACAC
ACACAAACACAGTAAACACATCCCGACAGGGACACAAACACATACACACG
CAGACACACACACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACACACACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACATACACACGCAGACACAC
 1 a0024c0032t0001g0108
a0024c0032t0001g0108
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.487+787_487+788ins
others(1044): Show 
c.487+787_487+788insGTGTGTCTGCGTGTGTATGTTTGTGTCCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGT
GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGTCGGGATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTAT
GTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTG
TGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGT
GTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGT
GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTC
TGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGCGT
ATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT
GTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GTTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTG
TCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGT
GTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTG
TGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT
GTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316126
chrX:316126 G
G
 GACACACA
others(1153): Show 
GACACACACACACACACACACACACACACTAAATACATCCCGACAGGGAC
AGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCC
AGCATGGACACAAACACATACACACGCAGACACACACACACACACACAAA
CAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACAC
ACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACG
CAGACACACACACACACACACACACACACACAGTAAATACATCCCGACAG
GGACAGACACACACACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACATACACACGCAGACACACACACA
CACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACAG
ACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGA
CACAAACACATACACACGCAGACACACACACACACACAAACACACAGTAA
ATACATCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGAACACAAACACATACATACGCAGACACACACA
CACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACAC
ACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACA
CATACACACGCAGACACACACACACACACACACACACACAGTAAATACAT
CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAG
TAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACA
CACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGAC
ACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACA
CAAACACATACACACGCAGACACACACACACACACACACACACACAGTAA
ATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAG
AGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATA
CACACGCAGAC
 1 a0008c0009t0001g0001
a0008c0009t0001g0001
 2 HG02109.hp1
HG02451.hp2
HG02109.hp1
HG02451.hp2
 intron_variant MODIFIER c.487+787_487+788ins
others(1160): Show 
c.487+787_487+788insGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGT
GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGG
ATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTC
CCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGT
ATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT
GTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTCTGTCCCTG
TCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGT
GTATGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT
GTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGT
GTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATT
TAGTGTGTGTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316126
chrX:316126 G
G
 GACACACA
others(392): Show 
GACACACACACACACCACACACACACACACTAAATACATCCCGACAGGGA
CAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CAGCATGGACACAAACACATACACACGCAGACACACACACACACACACAA
ACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACA
CACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACAC
GCAGACACACACACACACACACACACACACACACAGTAAATACATCCCGA
CAGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACA
CAGTAAACACATCCCGGCAGGGACACAAACATACACACGCAGACACACAC
 1 a0027c0040t0002g0148
a0027c0040t0002g0148
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.487+787_487+788ins
others(399): Show 
c.487+787_487+788insGTGTGTGTCTGCGTGTGTATGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGT
GTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCC
TGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGT
GTGTGGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316126
chrX:316126 GAC
GAC
 G
G
 58 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(55): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0061
a0001c0003t0003g0070
a0001c0003t0003g0107
a0004c0007t0002g0012
a0004c0007t0002g0025
a0009c0012t0002g0041
a0009c0012t0002g0042
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0023c0035t0004g0147
a0025c0020t0002g0026
a0028c0017t0002g0010
 62 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(59): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01175.hp2
HG01943.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02155.hp2
HG02273.hp2
HG02451.hp1
HG02615.hp1
HG03017.hp1
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18993.hp1
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19011.hp2
NA19064.hp2
NA19077.hp2
NA19078.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.487+786_487+787del
others(2): Show 
c.487+786_487+787delGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316126
chrX:316128 C
C
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+786G>C
c.487+786G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316128
chrX:316132 C
C
 CACACACA
others(247): Show 
CACACACACACACACACACACACACTAAATACATCCCGACAGGGACAGAC
ACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCA
GGGACACAAACACATACACACGCAGACACACACACACACACAAACACACA
GTAAATACATCCCGACAGGGACAGACACACACACACAGAGACACACACAG
AGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATA
CGCAG
 2 a0003c0004t0002g0087
a0003c0004t0002g0099
a0003c0004t0002g0087
a0003c0004t0002g0099
 2 NA18993.hp2
NA19062.hp1
NA18993.hp2
NA19062.hp1
 intron_variant MODIFIER c.487+781_487+782ins
others(254): Show 
c.487+781_487+782insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT
GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
GTGTGTGTGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316132
chrX:316138 C
C
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+776G>C
c.487+776G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316138
chrX:316140 C
C
 A
A
 1 a0010c0031t0005g0104
a0010c0031t0005g0104
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.487+774G>T
c.487+774G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316140
chrX:316140 C
C
 CACAA
CACAA
 49 a0001c0003t0001g0081
a0001c0003t0003g0112
a0001c0003t0003g0145
others(46): Show 
a0001c0003t0001g0081
a0001c0003t0003g0112
a0001c0003t0003g0145
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0034t0003g0073
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0005c0010t0001g0017
a0005c0010t0001g0019
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0015c0022t0004g0103
a0018c0030t0003g0102
 51 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(48): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp2
HG00733.hp2
HG01071.hp1
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01346.hp1
HG01361.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02486.hp1
HG02615.hp2
HG02717.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG06807.hp1
HG06807.hp2
NA18942.hp1
NA18949.hp2
NA18957.hp2
NA18961.hp1
NA18967.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA19011.hp1
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487+773_487+774ins
others(4): Show 
c.487+773_487+774insTTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316140
chrX:316142 C
C
 CAA
CAA
 1 a0002c0002t0001g0135
a0002c0002t0001g0135
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.487+771_487+772ins
others(2): Show 
c.487+771_487+772insTT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316142
chrX:316145 A
A
 T
T
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+769T>A
c.487+769T>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316145
chrX:316148 G
G
 C
C
 7 a0002c0002t0001g0110
a0002c0002t0001g0114
a0004c0006t0003g0013
others(4): Show 
a0002c0002t0001g0110
a0002c0002t0001g0114
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0016c0021t0003g0082
a0029c0015t0001g0008
 7 HG00140.hp2
HG00735.hp1
HG01123.hp2
others(4): Show 
HG00140.hp2
HG00735.hp1
HG01123.hp2
HG01243.hp2
HG01346.hp2
HG01433.hp1
NA18964.hp1
 intron_variant MODIFIER c.487+766C>G
c.487+766C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316148
chrX:316153 T
T
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+761A>G
c.487+761A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316153
chrX:316161 G
G
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+753C>T
c.487+753C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316161
chrX:316171 G
G
 GAC
GAC
 33 a0001c0003t0001g0072
a0002c0002t0001g0068
a0002c0002t0001g0110
others(30): Show 
a0001c0003t0001g0072
a0002c0002t0001g0068
a0002c0002t0001g0110
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0005t0004g0076
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0002g0087
a0003c0004t0002g0099
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0012c0013t0001g0134
a0013c0016t0002g0009
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 34 HG00140.hp2
HG00639.hp1
HG00735.hp1
others(31): Show 
HG00140.hp2
HG00639.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01123.hp2
HG01346.hp2
HG01361.hp2
HG01433.hp1
HG02080.hp2
HG02109.hp1
HG02451.hp2
HG02735.hp2
HG03130.hp2
HG03834.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18964.hp1
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18993.hp2
NA19002.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
 intron_variant MODIFIER c.487+741_487+742dup
others(2): Show 
c.487+741_487+742dupGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316171
chrX:316171 G
G
 GACACACA
others(365): Show 
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACTAAATA
CATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACA
CAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACACAC
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACACACTA
AATACATCCCGACAGGGACAGAC
 1 a0002c0002t0001g0113
a0002c0002t0001g0113
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.487+742_487+743ins
others(372): Show 
c.487+742_487+743insGTCTGTCCCTGTCGGGATGTATTTAGTGTG
TGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGG
GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGT
CCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAG
TGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCC
GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316171
chrX:316171 GACACAC
GACACAC
 G
G
 2 a0010c0031t0005g0104
a0016c0021t0003g0082
a0010c0031t0005g0104
a0016c0021t0003g0082
 2 HG01243.hp2
NA18906.hp1
HG01243.hp2
NA18906.hp1
 intron_variant MODIFIER c.487+737_487+742del
others(6): Show 
c.487+737_487+742delGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316171
chrX:316177 C
C
 CACACAGA
others(105): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACACTAAATACATC
CCGACAGGGACAG
 1 a0005c0010t0001g0019
a0005c0010t0001g0019
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.487+736_487+737ins
others(112): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTAGTGTGTG
TGTGTGTGTGTGTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGA
TGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(103): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAG
 5 a0001c0003t0003g0112
a0002c0002t0001g0139
a0002c0005t0002g0121
others(2): Show 
a0001c0003t0003g0112
a0002c0002t0001g0139
a0002c0005t0002g0121
a0005c0010t0001g0017
a0012c0013t0001g0146
 5 HG00280.hp2
HG02258.hp2
HG02273.hp1
others(2): Show 
HG00280.hp2
HG02258.hp2
HG02273.hp1
HG03654.hp2
NA20129.hp2
 intron_variant MODIFIER c.487+736_487+737ins
others(110): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTAGTGTGTG
TGTGTGTGTGTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATG
TGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(229): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACACACGCAGACACACACACACACAC
ACACACACACACAGTAAATACATCCCGACAGGGACAG
 1 a0002c0002t0001g0109
a0002c0002t0001g0109
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(236): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTGTTTGTGTCCCTGCTGG
GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGT
CCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATG
TATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCT
CTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1035): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACACACACACACACAGTAAATACATCCCGACAGGGA
CAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAA
ACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGA
GACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATAC
ACACGCAGACACACACACACACACACACAAACACACAGTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACACA
CAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACAT
CCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACAC
AAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACA
GAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACAT
ACACACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGG
GACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGT
AAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACAC
ACACACACACACACACACACTAAATACATCCCGACAGGGACAG
 1 a0003c0004t0002g0100
a0003c0004t0002g0100
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(1042): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTAGTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTAT
TTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTG
TGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTG
TTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTG
TGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGT
ATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTG
CGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1023): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGG
ACACAAACACATACACACGCAGACACACACACACACACACAAACACACAG
TAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACA
CAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACACACACACAGTAAATACATCCCGACAGGGACA
GACACAGACACACACACAGAGACACACACAGAGACACACACAAACACAGT
AAACACATGCTGGCAGGGACACAAACACATACACACGCAGACACACACAC
ACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGG
ACACAAACACATACACACGCAGACACACACACACACACACAAACACACAG
TAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACA
CAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACA
CACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACACACACTAAATACATCCCGACAGGGACAG
 1 a0003c0004t0002g0090
a0003c0004t0002g0090
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(1030): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTAGTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
CTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTG
TGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTT
TACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
CTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTG
TGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTG
TTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGT
CGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTG
TTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(235): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAG
 1 a0002c0034t0003g0073
a0002c0034t0003g0073
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(242): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTG
CGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1027): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGA
CACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGAC
ACAAACACATACACACGCAGACACACACACACACACACAAACACACAGTA
AATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGA
CACAGACACACACACAGAGACACACACAGAGACACACACAAACACAGTAA
ACACATGCTGGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACAAACACAC
AGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACAT
CCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACAC
ACACACACACACTAAATACATCCCGACAGGGACAG
 1 a0003c0004t0002g0096
a0003c0004t0002g0096
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(1034): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTAGTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTAT
TTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTG
TGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCA
TGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGT
CTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTG
TGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTG
TTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTG
TGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGA
TGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCC
CTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGTA
TGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCT
GTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1023): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGA
CACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGAC
ACAAACACATACACACGCAGACACACACACACACACACAAACACACAGTA
AATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGA
CACAGACACACACACAGAGACACACACAGAGACACACACAAACACAGTAA
ACACATGCTGGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGA
CACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGAC
ACAAACACATACACACGCAGACACACACACACACACACAAACACACAGTA
AATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACA
CACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACACACACTAAATACATCCCGACAGGGACAG
 4 a0002c0005t0002g0006
a0003c0004t0002g0080
a0003c0004t0002g0095
others(1): Show 
a0002c0005t0002g0006
a0003c0004t0002g0080
a0003c0004t0002g0095
a0003c0039t0002g0094
 5 HG00639.hp2
HG01167.hp1
HG01361.hp1
others(2): Show 
HG00639.hp2
HG01167.hp1
HG01361.hp1
HG01993.hp2
NA18991.hp2
 intron_variant MODIFIER c.487+736_487+737ins
others(1030): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTAGTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTAT
TTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTG
TGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTG
TTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTAT
TTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTG
TTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGT
CGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTG
TTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1019): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGA
CACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGAC
ACAAACACATACACACGCAGACACACACACACACACACAAACACACAGTA
AATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGA
CACAGACACACACACAGAGACACACACAGAGACACACACAAACACAGTAA
ACACATGCTGGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGA
CACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGAC
ACAAACACATACACACGCAGACACACACACACACACACAAACACACAGTA
AATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACA
CACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACACTAAATACATCCCGACAGGGACAG
 1 a0003c0004t0002g0088
a0003c0004t0002g0088
 1 NA19055.hp2
NA19055.hp2
 intron_variant MODIFIER c.487+736_487+737ins
others(1026): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTAGTGTGTG
TGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGG
GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGT
GTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCT
GTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTG
TGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTA
CTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCT
GTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTG
TGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTA
CTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGG
ATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTGTTTG
TGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1015): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGA
CACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGAC
ACAAACACATACACACGCAGACACACACACACACACACAAACACACAGTA
AATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGA
CACAGACACACACACAGAGACACACACAGAGACACACACAAACACAGTAA
ACACATGCTGGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGA
CACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGAC
ACAAACACATACACACGCAGACACACACACACACACACAAACACACAGTA
AATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACA
CACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGC
AGGGACACAAACACATACACACGCAGACACACACACACACACACACACAC
TAAATACATCCCGACAGGGACAG
 2 a0003c0038t0001g0097
a0011c0014t0001g0007
a0003c0038t0001g0097
a0011c0014t0001g0007
 3 NA18949.hp2
NA18957.hp2
NA19058.hp2
NA18949.hp2
NA18957.hp2
NA19058.hp2
 intron_variant MODIFIER c.487+736_487+737ins
others(1022): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTAGTGTGTG
TGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGA
TGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGT
GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTCTGCG
TGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCC
CTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCG
TGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTG
TGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGT
ATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTGTTTGTGTT
CCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(233): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACAGTAAATACATCCCGACAGGGACAG
 17 a0002c0002t0001g0074
a0002c0002t0001g0122
a0002c0002t0001g0124
others(14): Show 
a0002c0002t0001g0074
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0138
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0123
a0002c0005t0002g0130
 17 HG00408.hp1
HG00423.hp2
HG00558.hp1
others(14): Show 
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00733.hp2
HG01169.hp2
HG01175.hp1
HG02040.hp1
HG02129.hp2
HG02155.hp1
HG02717.hp1
HG03491.hp1
NA18942.hp1
NA18961.hp1
NA18967.hp1
NA18992.hp1
NA19063.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(240): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCG
TATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1021): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC
AAACACATACACACGCAGACACACACACACACACACAAACACACAGTAAA
TACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAA
CACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAAC
ACATGCTGGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC
AAACACATACACACGCAGACACACACACACACACACAAACACACAGTAAA
TACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAA
CACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACA
CACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGC
AGGGACACAAACACATACACACGCAGACACACACACACACACACACACAC
ACACACTAAATACATCCCGACAGGGACAG
 1 a0003c0004t0001g0091
a0003c0004t0001g0091
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(1028): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTAGTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTAT
TTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTG
TGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTG
TTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTAT
TTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTT
TACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCG
GGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTGTT
TGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1021): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC
AAACACATACACACGCAGACACACACACACACACACAAACACACAGTAAA
TACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAA
CACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAAC
ACATGCTGGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC
AAACACATACACACGCAGACACACACACACACACACAAACACACAGTAAA
TACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAA
CACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACACACAC
ACACACTAAATACATCCCGACAGGGACAG
 1 a0003c0004t0001g0092
a0003c0004t0001g0092
 1 NA19070.hp1
NA19070.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(1028): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTAGTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTAT
TTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTG
TGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTG
TTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTAT
TTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTT
TACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCG
GGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTGTT
TGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1019): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC
AAACACATACACACGCAGACACACACACACACACACAAACACACAGTAAA
TACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAA
CACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAAC
ACATGCTGGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC
AAACACATACACACGCAGACACACACACACACACACAAACACACAGTAAA
TACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAA
CACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACACACAC
ACACTAAATACATCCCGACAGGGACAG
 1 a0003c0004t0001g0086
a0003c0004t0001g0086
 1 NA18992.hp2
NA18992.hp2
 intron_variant MODIFIER c.487+736_487+737ins
others(1026): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTAGTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
CTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTG
TGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTT
TACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
CTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTG
TGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTA
CTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGG
ATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTGTTTG
TGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1013): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC
AAACACATACACACGCAGACACACACACACACACACAAACACACAGTAAA
TACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAA
CACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAAC
ACATGCTGGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC
AAACACATACACACGCAGACACACACACACACACACAAACACACAGTAAA
TACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAA
CACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACACACAC
ACTAAATACATCCCGACAGGG
 1 a0003c0004t0001g0089
a0003c0004t0001g0089
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(1020): Show 
c.487+736_487+737insCCCTGTCGGGATGTATTTAGTGTGTGTGTG
TGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGA
TGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGT
GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTCTGCG
TGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCC
CTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCG
TGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTAT
TTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTGTTTGTGTTCC
TGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1145): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC
AAACACATACACACGCAGACACACACACACACACACACACACTAAATACA
TCCCGACAGGGACAGACACACACACACAGACACACACACAGAGACACACA
CAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACACACACAAACACACAGTAAATACCTCCCGACA
GGGACAGACACACACACACAGACACACACACAGAGACACACACAAACACA
GTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACAC
ACACACACACACACACACAAACACACAGTAAATACATCCCGACAGGGACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACACTAAA
TACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAA
CACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGG
ACACAAACACATACACACGCAGACACACACACACACACACACACACACAC
AGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACACACACAGTAAATACATCCCGACAGGGA
CAG
 1 a0006c0011t0003g0144
a0006c0011t0003g0144
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(1152): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCT
GTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAGGTATTTACTGTGTGTTTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTG
TGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGT
ATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTG
TTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTG
TGTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1145): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC
AAACACATACACACGCAGACACACACACACACACACACACACTAAATACA
TCCCGACAGGGACAGACACACACACACAGACACACACACAGAGACACACA
CAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACACACACAAACACACAGTAAATACCTCCCGACA
GGGACAGACACACACACACAGACACACACACAGAGACACACACAAACACA
GTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACAC
ACACACACACACACACACAAACACACAGTAAATACATCCCGACAGGGACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACACTAAA
TACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAA
CACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGG
ACACAAACACATACACACGCAGACACACACACACACACACACACACACAG
TAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACA
CAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACACACACACACAGTAAATACATCCCGACAGGGA
CAG
 1 a0006c0011t0003g0142
a0006c0011t0003g0142
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(1152): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCT
GTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAGGTATTTACTGTGTGTTTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTG
TGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGT
ATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTG
TTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTG
TGTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1143): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC
AAACACATACACACGCAGACACACACACACACACACACACACTAAATACA
TCCCGACAGGGACAGACACACACACACAGACACACACACAGAGACACACA
CAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACACACACAAACACACAGTAAATACCTCCCGACA
GGGACAGACACACACACACAGACACACACACAGAGACACACACAAACACA
GTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACAC
ACACACACACACACACACAAACACACAGTAAATACATCCCGACAGGGACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACACTAAA
TACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAA
CACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGG
ACACAAACACATACACACGCAGACACACACACACACACACACACACACAG
TAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACA
CAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACACACACACAGTAAATACATCCCGACAGGGACA
G
 1 a0001c0003t0003g0145
a0001c0003t0003g0145
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.487+736_487+737ins
others(1150): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTC
TGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTG
TTTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
CTGTGTGTGTGTGTCTGTCCCTGTCGGGAGGTATTTACTGTGTGTTTGTG
TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGT
GTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTAT
TTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTG
TGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1795): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC
AAACACATACACACGCAGACACACACACACACACACACACACTAAATACA
TCCCGACAGGGACAGACACACACACACAGACACACACACAGAGACACACA
CAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACACACACAAACACACAGTAAATACCTCCCGACA
GGGACAGACACACACACACAGACACACACACAGAGACACACACAAACACA
GTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACAC
ACACACACACACACACACAAACACACAGTAAATACATCCCGACAGGGACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACACTAAA
TACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAA
CACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGG
ACACAAACACATACACACGCAGACACACACACACACACACACACACACAG
TAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACA
CAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACACACACACAGTAAATACATCCCGACAGGGACA
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCA
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
AGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACACACTAAATACATCCCGACAGGGACAGA
CACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACAC
ATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACAC
ACACACAAACACACAGTAAATACCTCCCGACAGGGACAGACACACACACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACACACAC
AGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACACACACAGTAAATACATCCCGACAGGGA
CAG
 1 a0006c0011t0003g0143
a0006c0011t0003g0143
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.487+736_487+737ins
others(1802): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAG
GTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTA
TGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCT
GTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAGTG
TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCG
TGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCT
GTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTG
TGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAGGTATTTACTGTGTGTTTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTG
TGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGT
ATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTG
TTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTG
TGTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(231): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACAGTAAATACATCCCGACAGGGACAG
 1 a0002c0002t0001g0137
a0002c0002t0001g0137
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(238): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCT
GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTA
TGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGT
CTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1015): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACACA
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAA
ACACATACACACGCAGACACACACACACACACACACACACACAGTAAATA
CATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACA
CAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGACACAC
ACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACA
GACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAACAC
ATGCTGGCAGGGACACAAACACATACACACGCAGACACACACACACACAC
ACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGACACA
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAA
ACACATACACACGCAGACACACACACACACAAACACACAGTAAATACATC
CCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGT
AAACACATGCTGGCAGGGACACAAACACATACACACGCAGACACACACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGA
CACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGAC
ACAAACACATACACACGCAGACACACACACACACACACACACACACACAC
TAAATACATCCCGACAGGGACAG
 1 a0018c0030t0003g0102
a0018c0030t0003g0102
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(1022): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTAGTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTAT
TTACTGTGTGTTTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCT
GTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTG
TGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTA
CTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTC
CCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCT
GTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTG
TGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGT
ATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTGTTTGTGTT
CCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(885): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACAAACACACAGTAAATACCTCCCGACAGGGACAGACACACA
CACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACATACAT
ACGCAGACACACACACACACACACACACACTAAATACATCCCGACAGGGA
CAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CAGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACA
CAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACAC
ATACACACGCAGACACACACACACACACACACACACACACAGTAAATACA
TCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACA
GTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAG
 1 a0015c0022t0004g0103
a0015c0022t0004g0103
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(892): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC
GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT
GTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTG
TGTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACT
GTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTG
TTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAGGTATTTACTGTGTG
TTTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTG
CGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(883): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACAAACACACAGTAAATACCTCCCGACAGGGACAGACACACA
CACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACATACAT
ACGCAGACACACACACACACACACACACACTAAATACATCCCGACAGGGA
CAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CAGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACA
CAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACAC
ATACACACGCAGACACACACACACACACACACACACACACAGTAAATACA
TCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACA
GTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACAC
ACACACACACACACACAGTAAATACATCCCGACAGGGACAG
 1 a0014c0023t0001g0075
a0014c0023t0001g0075
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.487+736_487+737ins
others(890): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGG
GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGT
CCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC
TGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGT
GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTG
TGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGT
GTTTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAC
TGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAGGTATTTACTGTGTGTT
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCG
TATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(883): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACAAACACACAGTAAATACCTCCCGACAGGGACAGACACACA
CACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACATAC
ATACGCAGACACACACACACACACACACACACTAAATACATCCCGACAGG
GACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACAT
CCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACAC
ACACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACA
GAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACAT
ACACACGCAGACACACACACACACACACACACACACACACAGTAAATACA
TCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACA
GTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACAC
ACACACACACACACACAGTAAATACATCCCGACAGGGACAG
 1 a0001c0003t0001g0081
a0001c0003t0001g0081
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.487+736_487+737ins
others(890): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG
TGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGG
GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGT
CCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT
GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT
ACTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG
TCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
CTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTG
TGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTG
TGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT
TGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT
GTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAGGTATTTACTGTGTGTT
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
CTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCG
TATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGT
GTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 CACACAGA
others(1023): Show 
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCGGGAACACAA
ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGA
CACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGAC
ACAAACACATACACACGCAGACACACACACACACACACAAACACACAGTA
AATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGA
CACAGACACACACACAGAGACACACACAGAGACACACACAAACACAGTAA
ACACATGCTGGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGA
CACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGAC
ACAAACACATACACACGCAGACACACACACACACACACAAACACACAGTA
AATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACA
CACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACACACACTAAATACATCCCGACAGGGACAG
 1 a0003c0004t0002g0093
a0003c0004t0002g0093
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.487+736_487+737ins
others(1030): Show 
c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTAGTGTGTG
TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG
CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTAT
TTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTG
TGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTG
TTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTG
TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT
TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTAT
TTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG
TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT
GTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG
TGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTG
TTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGT
CGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTG
TTTGTGTTCCCGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+737G>C
c.487+737G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316177 C
C
 T
T
 52 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(49): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0003g0061
a0001c0003t0003g0070
a0001c0003t0003g0107
a0004c0007t0002g0012
a0004c0007t0002g0025
a0009c0012t0002g0041
a0009c0012t0002g0042
a0019c0026t0001g0048
a0020c0025t0002g0051
a0023c0035t0004g0147
a0025c0020t0002g0026
a0028c0017t0002g0010
 56 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(53): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01175.hp2
HG01943.hp1
HG02027.hp2
HG02155.hp2
HG02273.hp2
HG03017.hp1
HG03195.hp1
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18993.hp1
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19011.hp2
NA19064.hp2
NA19077.hp2
NA19078.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.487+737G>A
c.487+737G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316177
chrX:316180 A
A
 AGACATGC
others(1): Show 
AGACATGCG
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+733_487+734ins
others(8): Show 
c.487+733_487+734insCGCATGTC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316180
chrX:316187 C
C
 CACAG
CACAG
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+726_487+727ins
others(4): Show 
c.487+726_487+727insCTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316187
chrX:316189 T
T
 C
C
 87 a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
others(84): Show 
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0018c0030t0003g0102
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 90 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(87): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487+725A>G
c.487+725A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316189
chrX:316195 G
G
 C
C
 3 a0001c0003t0001g0105
a0001c0024t0003g0106
a0010c0031t0005g0104
a0001c0003t0001g0105
a0001c0024t0003g0106
a0010c0031t0005g0104
 3 HG02647.hp2
NA18906.hp1
NA19043.hp2
HG02647.hp2
NA18906.hp1
NA19043.hp2
 intron_variant MODIFIER c.487+719C>G
c.487+719C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316195
chrX:316197 G
G
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+717C>G
c.487+717C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316197
chrX:316203 C
C
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+711G>C
c.487+711G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316203
chrX:316207 A
A
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+707T>G
c.487+707T>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316207
chrX:316214 TA
TA
 T
T
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+699delT
c.487+699delT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316214
chrX:316226 A
A
 G
G
 54 a0001c0003t0001g0072
a0002c0002t0001g0068
a0002c0002t0001g0074
others(51): Show 
a0001c0003t0001g0072
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0002g0087
a0003c0004t0002g0099
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0012c0013t0001g0134
a0013c0016t0002g0009
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 55 HG00099.hp1
HG00140.hp2
HG00408.hp1
others(52): Show 
HG00099.hp1
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp1
HG02040.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02451.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp1
HG03130.hp2
HG03491.hp1
HG03834.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18992.hp1
NA18993.hp2
NA19002.hp2
NA19057.hp1
NA19057.hp2
NA19062.hp1
NA19063.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487+688T>C
c.487+688T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316226
chrX:316227 G
G
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+687C>T
c.487+687C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316227
chrX:316236 C
C
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+678G>C
c.487+678G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316236
chrX:316238 A
A
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+676T>G
c.487+676T>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316238
chrX:316245 A
A
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+669T>C
c.487+669T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316245
chrX:316248 C
C
 CGGAGA
CGGAGA
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+665_487+666ins
others(5): Show 
c.487+665_487+666insTCTCC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316248
chrX:316251 G
G
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+663C>T
c.487+663C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316251
chrX:316254 G
G
 GAC
GAC
 1 a0002c0005t0002g0121
a0002c0005t0002g0121
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.487+658_487+659dup
others(2): Show 
c.487+658_487+659dupGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316254
chrX:316254 G
G
 GACAC
GACAC
 4 a0005c0010t0001g0017
a0005c0010t0001g0019
a0014c0023t0001g0075
others(1): Show 
a0005c0010t0001g0017
a0005c0010t0001g0019
a0014c0023t0001g0075
a0015c0022t0004g0103
 4 HG00099.hp2
HG00280.hp2
HG02486.hp1
others(1): Show 
HG00099.hp2
HG00280.hp2
HG02486.hp1
HG02970.hp2
 intron_variant MODIFIER c.487+656_487+659dup
others(4): Show 
c.487+656_487+659dupGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316254
chrX:316254 G
G
 GACACAC
GACACAC
 2 a0002c0002t0001g0139
a0012c0013t0001g0146
a0002c0002t0001g0139
a0012c0013t0001g0146
 2 HG02258.hp2
HG03654.hp2
HG02258.hp2
HG03654.hp2
 intron_variant MODIFIER c.487+654_487+659dup
others(6): Show 
c.487+654_487+659dupGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316254
chrX:316254 G
G
 GACAGACA
others(1): Show 
GACAGACAC
 1 a0029c0015t0001g0008
a0029c0015t0001g0008
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.487+659_487+660ins
others(8): Show 
c.487+659_487+660insGTGTCTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316254
chrX:316254 G
G
 GCTGGTGG
others(5): Show 
GCTGGTGGAACAC
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+659_487+660ins
others(12): Show 
c.487+659_487+660insGTGTTCCACCAG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316254
chrX:316266 G
G
 C
C
 84 a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0003g0112
others(81): Show 
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0003g0112
a0001c0003t0003g0145
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0018c0030t0003g0102
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 87 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(84): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487+648C>G
c.487+648C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316266
chrX:316270 C
C
 A
A
 4 a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
others(1): Show 
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0029c0015t0001g0008
 4 HG00099.hp1
HG01123.hp2
HG01433.hp1
others(1): Show 
HG00099.hp1
HG01123.hp2
HG01433.hp1
NA18964.hp1
 intron_variant MODIFIER c.487+644G>T
c.487+644G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316270
chrX:316270 C
C
 CAA
CAA
 38 a0002c0002t0001g0068
a0002c0002t0001g0115
a0002c0002t0001g0116
others(35): Show 
a0002c0002t0001g0068
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0005t0002g0006
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0016
a0011c0014t0001g0007
a0012c0013t0001g0134
a0013c0016t0002g0009
a0018c0030t0003g0102
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
 40 HG00639.hp1
HG00639.hp2
HG00735.hp2
others(37): Show 
HG00639.hp1
HG00639.hp2
HG00735.hp2
HG01167.hp1
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02080.hp1
HG02080.hp2
HG02300.hp1
HG02735.hp2
HG03130.hp2
HG03834.hp2
NA18941.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18964.hp2
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp2
NA19002.hp2
NA19011.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
 intron_variant MODIFIER c.487+643_487+644ins
others(2): Show 
c.487+643_487+644insTT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316270
chrX:316270 C
C
 CACAA
CACAA
 2 a0002c0005t0004g0076
a0008c0009t0001g0001
a0002c0005t0004g0076
a0008c0009t0001g0001
 3 HG02109.hp1
HG02451.hp2
NA18906.hp2
HG02109.hp1
HG02451.hp2
NA18906.hp2
 intron_variant MODIFIER c.487+643_487+644ins
others(4): Show 
c.487+643_487+644insTTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316270
chrX:316270 C
C
 CACACACA
others(1): Show 
CACACACAA
 3 a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
 3 HG00140.hp2
HG00735.hp1
HG01346.hp2
HG00140.hp2
HG00735.hp1
HG01346.hp2
 intron_variant MODIFIER c.487+643_487+644ins
others(8): Show 
c.487+643_487+644insTTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316270
chrX:316272 C
C
 A
A
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+642G>T
c.487+642G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316272
chrX:316274 C
C
 A
A
 1 a0016c0021t0003g0082
a0016c0021t0003g0082
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.487+640G>T
c.487+640G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316274
chrX:316278 G
G
 C
C
 23 a0001c0003t0001g0072
a0002c0002t0001g0074
a0002c0002t0001g0109
others(20): Show 
a0001c0003t0001g0072
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0034t0003g0073
a0003c0004t0002g0087
a0003c0004t0002g0099
 23 HG00408.hp1
HG00423.hp2
HG00558.hp1
others(20): Show 
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00733.hp2
HG00741.hp1
HG01071.hp1
HG01169.hp2
HG01175.hp1
HG01346.hp1
HG02040.hp1
HG02129.hp2
HG02155.hp1
HG02717.hp1
HG02970.hp1
HG03491.hp1
NA18942.hp1
NA18961.hp1
NA18967.hp1
NA18992.hp1
NA18993.hp2
NA19062.hp1
NA19063.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487+636C>G
c.487+636C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316278
chrX:316278 G
G
 GC
GC
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+635_487+636ins
others(1): Show 
c.487+635_487+636insG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316278
chrX:316279 T
T
 G
G
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+635A>C
c.487+635A>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316279
chrX:316280 A
A
 T
T
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+634T>A
c.487+634T>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316280
chrX:316283 T
T
 C
C
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+631A>G
c.487+631A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316283
chrX:316300 A
A
 AGACACAC
others(1134): Show 
AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA
CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA
CACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAC
ACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAA
CACATACATACGCAGACACACACACACACAAACACACACACACACAGTAA
ATACATCCCGACAGGGACAGACACACACACACACACAGACACACACAGTA
AATGCATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGG
ACAGACACAGACACACAGACACACACACAGGGTAAACACATCCTGACGGA
CACACACACACACAGACACACACAGTAAACACATCCCAATGGACACAAAC
ACACACATGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACA
CACACGCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGACAC
ACACACATGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGG
GACAGACATACACACACACACACACACACGCAGACACACAGAGACACACA
CACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACAC
ACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACA
CAGACAGACATGCGCAGACACACAGACACACACAGAGAGACACACACACA
CAGAGACACACACAGTAACACATCCCAACAGGGACAGACACACACAGTAA
ACACATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGAC
ACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACA
CACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGAC
ATGCGCAGACACACAGACACACACACACACAGACACACACAGTAACACAT
CCCAACAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACACA
CACACACACAGACACAAACACAGCGTAACACATCCCGACAGG
 1 a0002c0002t0001g0138
a0002c0002t0001g0138
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.487+613_487+614ins
others(1141): Show 
c.487+613_487+614insCCTGTCGGGATGTGTTACGCTGTGTTTGTG
TCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTGTCT
GTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTCTGT
GTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTG
AGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTG
TTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTCCCT
GTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTACTG
TGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCTGCG
CATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTGTCT
GTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGATGT
GTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGTGTG
TGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTGTGT
CTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGTGTG
TGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTGTGT
CTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGTCTG
TGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTGTGT
GTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGTCCG
TCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTCCCT
GTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTCTG
CGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGT
GTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTT
TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC
TGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT
GTGTGTGTGTC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316300
chrX:316301 G
G
 GAC
GAC
 2 a0001c0003t0001g0105
a0001c0024t0003g0106
a0001c0003t0001g0105
a0001c0024t0003g0106
 2 HG02647.hp2
NA19043.hp2
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+611_487+612dup
others(2): Show 
c.487+611_487+612dupGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1130): Show 
GACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACA
CAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACAC
ATACATACGCAGACACACACACACACAAACACACACACAGTAAATACATC
CCGACAGGGACAGACACACACACACACACAGACACACACAGTAAATGCAT
CCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGACAGACA
CAGACACACAGACACACACACAGGGTAAACACATCCTGACGGACACACAC
ACACACAGACACACACAGTAAACACATCCCAATGGACACAAACACACACA
TGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACACACACGC
AGACACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACA
TGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGGGACAGAC
ATACACACACACACACACACACGCAGACACACAGAGACACACACACACAG
TAAACACATCCCGACAGGGACAGACACAGACACACAGACACACACAGACA
CACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAG
ACATGCGCAGACACACAGACACACACAGAGAGACACACACACACAGAGAC
ACACACAGTAACACATCCCAACAGGGACAGACACACACAGTAAACACATC
CCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACA
GTAAACACATCCCGACAGGGACAGACACAGACACACAGACACACACAGAC
ACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACATGCGCA
GACACACAGACACACACACACACAGACACACACAGTAACACATCCCAACA
GGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACACACACACAC
ACAGACACAAACACAGCGTAACACATCCCGACAGGGAC
 1 a0002c0002t0001g0136
a0002c0002t0001g0136
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1137): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTTTGTGTGTGTGTGTGTCTGC
GTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTT
GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
CGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTG
TGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1138): Show 
GACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACA
CACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAAC
ACATACATACGCAGACACACACACACACAAACACACACACACACAGTAAA
TACATCCCGACAGGGACAGACACACACACACACACAGACACACACAGTAA
ATGCATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGA
CAGACACAGACACACAGACACACACACAGGGTAAACACATCCTGACGGAC
ACACACACACACAGACACACACAGTAAACACATCCCAATGGACACAAACA
CACACATGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACAC
ACACGCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGACACA
CACACATGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGGG
ACAGACATACACACACACACACACACACACGCAGACACACAGAGACACAC
ACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACA
CACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGAC
ACAGACAGACATGCGCAGACACACAGACACACACAGAGAGACACACACAC
ACAGAGACACACACAGTAACACATCCCAACAGGGACAGACACACACAGTA
AACACATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGA
CACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACAC
ACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGA
CATGCGCAGACACACAGACACACACACACACAGACACACACAGTAACACA
TCCCAACAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACAC
ACACACACACAGACACAAACACAGCGTAACACATCCCGACAGGGAC
 1 a0002c0002t0001g0137
a0002c0002t0001g0137
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1145): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTG
TGTGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGT
GTGTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTG
TGTGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGT
GTCTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTC
TGTGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCT
GTCCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTG
TCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGT
GTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGT
GTGTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1136): Show 
GACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACA
CACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAAC
ACATACATACGCAGACACACACACACACAAACACACACACACACAGTAAA
TACATCCCGACAGGGACAGACACACACACACACACAGACACACACAGTAA
ATGCATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGA
CAGACACAGACACACAGACACACACACAGGGTAAACACATCCTGACGGAC
ACACACACACACAGACACACACAGTAAACACATCCCAATGGACACAAACA
CACACATGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACAC
ACACGCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGACACA
CACACATGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGGG
ACAGACATACACACACACACACACACACGCAGACACACAGAGACACACAC
ACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACACA
CAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACAC
AGACAGACATGCGCAGACACACAGACACACACAGAGAGACACACACACAC
AGAGACACACACAGTAACACATCCCAACAGGGACAGACACACACAGTAAA
CACATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACA
CACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACAC
ACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACA
TGCGCAGACACACAGACACACACACACACAGACACACACAGTAACACATC
CCAACAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACACAC
ACACACACAGACACAAACACAGCGTAACACATCCCGACAGGGAC
 13 a0002c0002t0001g0109
a0002c0002t0001g0122
a0002c0002t0001g0124
others(10): Show 
a0002c0002t0001g0109
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0002g0123
a0002c0005t0002g0130
 13 HG00408.hp1
HG00558.hp1
HG00733.hp2
others(10): Show 
HG00408.hp1
HG00558.hp1
HG00733.hp2
HG01071.hp1
HG02129.hp2
HG02155.hp1
HG03491.hp1
NA18942.hp1
NA18961.hp1
NA18967.hp1
NA18992.hp1
NA19063.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1143): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1136): Show 
GACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACA
CACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAAC
ACATACATACGCAGACACACACACACACAAACACACACACACACAGTAAA
TACATCCCGACAGGGACAGACACACACACACACACAGACACACACAGTAA
ATGCATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGA
CAGACATAGACACACAGACACACACACAGGGTAAACACATCCTGACGGAC
ACACACACACACAGACACACACAGTAAACACATCCCAATGGACACAAACA
CACACATGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACAC
ACACGCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGACACA
CACACATGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGGG
ACAGACATACACACACACACACACACACGCAGACACACAGAGACACACAC
ACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACACA
CAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACAC
AGACAGACATGCGCAGACACACAGACACACACAGAGAGACACACACACAC
AGAGACACACACAGTAACACATCCCAACAGGGACAGACACACACAGTAAA
CACATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACA
CACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACAC
ACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACA
TGCGCAGACACACAGACACACACACACACAGACACACACAGTAACACATC
CCAACAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACACAC
ACACACACAGACACAAACACAGCGTAACACATCCCGACAGGGAC
 1 a0002c0002t0001g0074
a0002c0002t0001g0074
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1143): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTATGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1138): Show 
GACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACA
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACAAACACACACACACACAGTA
AATACATCCCGACAGGGACAGACACACACACACACACAGACACACACAGT
AAATGCATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATG
GACAGACACAGACACACAGACACACACACAGGGTAAACACATCCTGACGG
ACACACACACACACAGACACACACAGTAAACACATCCCAATGGACACAAA
CACACACATGCAGACACACAGAGTAAACACATCCTGACAGGGACACACAC
ACACACGCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGACA
CACACACATGCAGACACACAGAGACACACACAGTAAACACATCCTGACAG
GGACAGACATACACACACACACACACACACGCAGACACACAGAGACACAC
ACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACA
CACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGAC
ACAGACAGACATGCGCAGACACACAGACACACACAGAGAGACACACACAC
ACAGAGACACACACAGTAACACATCCCAACAGGGACAGACACACACAGTA
AACACATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGA
CACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACAC
ACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGA
CATGCGCAGACACACAGACACACACACACACAGACACACACAGTAACACA
TCCCAACAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACAC
ACACACACACAGACACAAACACAGCGTAACACATCCCGACAGGGAC
 1 a0002c0002t0001g0135
a0002c0002t0001g0135
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1145): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1134): Show 
GACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGGACACAAACATACACACGCAGACACACACACACACAC
ACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACA
CAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACAC
ATACATACGCAGACACACACACACACAAACACACACACACACAGTAAATA
CATCCCGACAGGGACAGACACACACACACACACAGACACACACAGTAAAT
GCATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGACA
GACATAGACACACAGACACACACACAGGGTAAACACATCCTGACGGACAC
ACACACACACAGACACACACAGTAAACACATCCCAATGGACACAAACACA
CACATGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACACAC
ACGCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGACACACA
CACATGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGGGAC
AGACATACACACACACACACACACACGCAGACACACAGAGACACACACAC
ACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACACACA
GACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAG
ACAGACATGCGCAGACACACAGACACACACAGAGAGACACACACACACAG
AGACACACACAGTAACACATCCCAACAGGGACAGACACACACAGTAAACA
CATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACA
CACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACACAC
AGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACATG
CGCAGACACACAGACACACACACACACAGACACACACAGTAACACATCCC
AACAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACACACAC
ACACACAGACACAAACACAGCGTAACACATCCCGACAGGGAC
 1 a0002c0005t0001g0079
a0002c0005t0001g0079
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1141): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTATGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1506): Show 
GACACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAAC
ACATGCTGGCAGGGACACAAACACATACGCAGACACACACACACACAGTA
AATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACACACACACACACACTAAATACATCCCGACA
GGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACAC
ATCCCAGCATGGACACAAACACATACACACGCAGACACACACACACACAC
ACAAACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATAC
ACACGCAGACACACACACACACACACACACAAACACACAGTAAATACATC
CCGACAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACAC
ATCCCGGCAGGAACACAAACACATACATACGCAGACACACACACACACAA
ACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACA
CACACAGACACACACAGTAAATGCATCCCGACGGACAGACACACATACAG
AGTAAACACATCCCGATGGACAGACACAGACACACAGACACACACACAGG
GTAAACACATCCTGACGGACACACACACACACAGACACACACAGTAAACA
CATCCCAATGGACACAAACACACACATGCAGACACACAGAGTAAACACAT
CCTGACAGGGACACACACACACACGCAGACACACACACAGTAAACACATC
CCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACA
GTAAACACATCCTGACAGGGACAGACATACACACACACACACACACACGC
AGACACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACAGA
CACAGACACACAGACACACACAGACACACACAGACACACTCAGTAAACAC
ATCCCAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACAC
ACAGAGAGACACACACACACAGAGACACACACAGTAACACATCCCAACAG
GGACAGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACA
CATGCAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGACAG
ACACAGACACACAGACACACACAGACACACTCAGTAAACACATCCCAACA
GGGACAGACACAGACAGACATGCGCAGACACACAGACACACACACACACA
GACACACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGA
ACACAGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAACAC
ATCCCGACAGGGAC
 5 a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
others(2): Show 
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0090
 5 HG01993.hp1
HG02080.hp1
NA18992.hp2
others(2): Show 
HG01993.hp1
HG02080.hp1
NA18992.hp2
NA19011.hp1
NA19070.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1513): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
GTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGT
GTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTG
TGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1508): Show 
GACACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAAC
ACATGCTGGCAGGGACACAAACACATACGCAGACACACACACACACAGTA
AATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACACACACACACACACTAAATACATCCCGACA
GGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACAC
ATCCCAGCATGGACACAAACACATACACACGCAGACACACACACACACAC
ACAAACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATAC
ACACGCAGACACACACACACACACACACACACAAACACACAGTAAATACA
TCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGAACACAAACACATACATACGCAGACACACACACACAC
AAACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACA
CACACACAGACACACACAGTAAATGCATCCCGACGGACAGACACACATAC
AGAGTAAACACATCCCGATGGACAGACACAGACACACAGACACACACACA
GGGTAAACACATCCTGACGGACACACACACACACAGACACACACAGTAAA
CACATCCCAATGGACACAAACACACACATGCAGACACACAGAGTAAACAC
ATCCTGACAGGGACACACACACACACGCAGACACACACACAGTAAACACA
TCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACA
CAGTAAACACATCCTGACAGGGACAGACATACACACACACACACACACAC
GCAGACACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACA
GACACAGACACACAGACACACACAGACACACACAGACACACTCAGTAAAC
ACATCCCAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACAC
ACACAGAGAGACACACACACACAGAGACACACACAGTAACACATCCCAAC
AGGGACAGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACA
CACATGCAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGAC
AGACACAGACACACAGACACACACAGACACACTCAGTAAACACATCCCAA
CAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACACACACA
CAGACACACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGA
GAACACAGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAAC
ACATCCCGACAGGGAC
 4 a0003c0004t0002g0100
a0003c0038t0001g0097
a0011c0014t0001g0007
others(1): Show 
a0003c0004t0002g0100
a0003c0038t0001g0097
a0011c0014t0001g0007
a0018c0030t0003g0102
 5 NA18949.hp2
NA18957.hp2
NA19058.hp2
others(2): Show 
NA18949.hp2
NA18957.hp2
NA19058.hp2
NA19064.hp1
NA20129.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1515): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGT
GTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATT
TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT
GTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1504): Show 
GACACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAAC
ACATGCTGGCAGGGACACAAACACATACGCAGACACACACACACACAGTA
AATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACACACACACACACACTAAATACATCCCGACA
GGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACAC
ATCCCAGCATGGACACAAACACATACACACGCAGACACACACACACACAC
ACAAACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATAC
ACACGCAGACACACACACACACACACACACACAAACACACAGTAAATACA
TCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGAACACAAACACATACATACGCAGACACACACACACAC
AAACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACA
CACAGACACACACAGTAAATGCATCCCGACGGACAGACACACATACAGAG
TAAACACATCCCGATGGACAGACACAGACACACAGACACACACACAGGGT
AAACACATCCTGACGGACACACACACACACAGACACACACAGTAAACACA
TCCCAATGGACACAAACACACACATGCAGACACACAGAGTAAACACATCC
TGACAGGGACACACACACACACGCAGACACACACACAGTAAACACATCCC
AACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGT
AAACACATCCTGACAGGGACAGACATACACACACACACACACACACGCAG
ACACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACAGACA
CAGACACACAGACACACACAGACACACACAGACACACTCAGTAAACACAT
CCCAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACAC
AGAGAGACACACACACACAGAGACACACACAGTAACACATCCCAACAGGG
ACAGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACA
TGCAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGACAGAC
ACAGACACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGG
GACAGACACAGACAGACATGCGCAGACACACAGACACACACACACACAGA
CACACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGAAC
ACAGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAACACAT
CCCGACAGGGAC
 1 a0003c0004t0002g0088
a0003c0004t0002g0088
 1 NA19055.hp2
NA19055.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1511): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTG
TCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTCTGC
GTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTT
GTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCT
GCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTG
TGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGT
GTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGT
CTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTGTGTCTCTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1504): Show 
GACACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAAC
ACATGCTGGCAGGGACACAAACACATACGCAGACACACACACACACAGTA
AATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACACACACACTAAATACATCCCGACAGGGACA
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCA
GCATGGACACAAACACATACACACGCAGACACACACACACACACACAAAC
AGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACACACAAACACACAGTAAATACATCCCGA
CAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGAACACAAACACATACATACGCAGACACACACACACACAAACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACACA
CAGACACACACAGTAAATGCATCCCGACGGACAGACACACATACAGAGTA
AACACATCCCGATGGACAGACACAGACACACAGACACACACACAGGGTAA
ACACATCCTGACGGACACACACACACACAGACACACACAGTAAACACATC
CCAATGGACACAAACACACACATGCAGACACACAGAGTAAACACATCCTG
ACAGGGACACACACACACACGCAGACACACACACAGTAAACACATCCCAA
CAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGTAA
ACACATCCTGACAGGGACAGACATACACACACACACACACACACACGCAG
ACACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACAGACA
CAGACACACAGACACACACAGACACACACAGACACACTCAGTAAACACAT
CCCAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACAC
AGAGAGACACACACACACAGAGACACACACAGTAACACATCCCAACAGGG
ACAGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACA
TGCAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGACAGAC
ACAGACACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGG
GACAGACACAGACAGACATGCGCAGACACACAGACACACACACACACAGA
CACACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGAAC
ACAGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAACACAT
CCCGACAGGGAC
 1 a0003c0004t0002g0080
a0003c0004t0002g0080
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1511): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTG
TGTGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGT
GTGTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTG
TGTGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGT
GTCTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTC
TGTGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCT
GTCCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTG
TCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGT
GTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGT
GTGTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGT
CTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTGTGTCTCTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1498): Show 
GACACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAAC
ACATGCTGGCAGGGACACAAACACATACGCAGACACACACACACACAGTA
AATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACACACACACTAAATACATCCCGACAGGGACA
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCA
GCATGGACACAAACACATACACACGCAGACACACACACACACACACAAAC
AGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACACACAAACACACAGTAAATACATCCCGA
CAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGAACACAAACACATACATACGCAGACACACACACACACAAACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACACA
CAGACACACACAGTAAATGCATCCCGACGGACAGACACACATACAGAGTA
AACACATCCCGATGGACAGACACAGACACACAGACACACACACAGGGTAA
ACACATCCTGACGGACACACACACACACAGACACACACAGTAAACACATC
CCAATGGACACAAACACACACATGCAGACACACAGAGTAAACACATCCTG
ACAGGGACACACACACACACGCAGACACACACACAGTAAACACATCCCAA
CAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGTAA
ACACATCCTGACAGGGACAGACATACACACACACACACACACACGCAGAC
ACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACAGACACA
GACACACAGACACACACAGACACACACAGACACACTCAGTAAACACATCC
CAACAGGGACACAGACAGACATGCGCAGACACACAGACACACACAGAGAG
ACACACACACACAGAGACACACACAGTAACACATCCCAACAGGGACAGAC
ACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACATGCAGA
CACACAGAGACACACACAGTAAACACATCCCGACAGGGACAGACACAGAC
ACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGA
CACAGACAGACATGCGCAGACACACAGACACACACACACACAGACACACA
CAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGAACACAGCT
GGTGGAACACACACACACACAGACACAAACACAGCGTAACACATCCCGAC
AGGGAC
 1 a0002c0005t0002g0006
a0002c0005t0002g0006
 2 HG00639.hp2
HG01167.hp1
HG00639.hp2
HG01167.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1505): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCCCTGTTGGGATGTGTTTACTGAGTGTGTCTG
TGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTG
TTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGTGTGT
GTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTGTGTC
TGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGTGTGT
GTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTGTGTC
TGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGTCTGT
GTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTGTGTG
TCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGTCCGT
CGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTCCCTG
TCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTCTGC
GTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTT
GTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCT
GCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTG
TGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGT
GTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCG
GGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTG
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTCTGCGT
ATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTCTCTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1502): Show 
GACACACACACACAGAGACACACACAGAGACACACACAAACACAGTAAAC
ACATGCTGGCAGGGACACAAACACATACGCAGACACACACACACACAGTA
AATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACACACACACTAAATACATCCCGACAGGGACA
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCA
GCATGGACACAAACACATACACACGCAGACACACACACACACACACAAAC
AGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACACACAAACACACAGTAAATACATCCCGA
CAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGAACACAAACACATACATACGCAGACACACACACACACAAACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACACA
CAGACACACACAGTAAATGCATCCCGACGGACAGACACACATACAGAGTA
AACACATCCCGATGGACAGACACAGACACACAGACACACACACAGGGTAA
ACACATCCTGACGGACACACACACACACAGACACACACAGTAAACACATC
CCAATGGACACAAACACACACATGCAGACACACAGAGTAAACACATCCTG
ACAGGGACACACACACACACGCAGACACACACACAGTAAACACATCCCAA
CAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGTAA
ACACATCCTGACAGGGACAGACATACACACACACACACACACACGCAGAC
ACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACAGACACA
GACACACAGACACACACAGACACACACAGACACACTCAGTAAACACATCC
CAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACACAG
AGAGACACACACACACAGAGACACACACAGTAACACATCCCAACAGGGAC
AGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACATG
CAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGACAGACAC
AGACACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGA
CAGACACAGACAGACATGCGCAGACACACAGACACACACACACACAGACA
CACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGAACAC
AGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAACACATCC
CGACAGGGAC
 4 a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
others(1): Show 
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0039t0002g0094
 4 HG01361.hp1
HG01515.hp1
HG01993.hp2
others(1): Show 
HG01361.hp1
HG01515.hp1
HG01993.hp2
HG02300.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1509): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGT
GTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATT
TAGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTCT
GCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTG
TCTCTGTGTGTGTCTCTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(994): Show 
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACAAACACACACACAC
ACAGTAAATACATCCCGACAGGGACAGACACACACACACACACAGACACA
CACAGTAAATGCATCCCGACGGACAGACACACATACAGAGTAAACACATC
CCGATGGACAGACACAGACACACAGACACACACACAGGGTAAACACATCC
TGACGGACACACACACACACAGACACACACAGTAAACACATCCCAATGGA
CACAAACACACACATGCAGACACACAGAGTAAACACATCCTGACAGGGAC
ACACACACACACGCAGACACACACACAGTAAACACATCCCAACAGGGACG
CAGACACACACACATGCAGACACACAGAGACACACACAGTAAACACATCC
TGACAGGGACAGACATACACACACACACACACACACGCAGACACACAGAG
ACACACACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACA
GACACACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGG
ACAGACACAGACAGACATGCGCAGACACACAGACACACACAGAGAGACAC
ACACACACAGAGACACACACAGTAACACATCCCAACAGGGACAGACACAC
ACAGTAAACACATCCCAACAGGGACGCAGACACACACACATGCAGACACA
CAGAGACACACACAGTAAACACATCCCGACAGGGACAGACACAGACACAC
AGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACA
GACAGACATGCGCAGACACACAGACACACACACACACAGACACACACAGT
AACACATCCCAACAGGGACAGACACACATGCACGGAGAACACAGCTGGTG
GAACACACACACACACAGACACAAACACAGCGTAACACATCCCGACAGGG
AC
 3 a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
 3 HG00099.hp1
HG01123.hp2
HG01433.hp1
HG00099.hp1
HG01123.hp2
HG01433.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1001): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(996): Show 
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACAAACACACACACAC
ACAGTAAATACATCCCGACAGGGACAGACACACACACACACACAGACACA
CACAGTAAATGCATCCCGACGGACAGACACACATACAGAGTAAACACATC
CCGATGGACAGACACAGACACACAGACACACACACAGGGTAAACACATCC
TGACGGACACACACACACACAGACACACACAGTAAACACATCCCAATGGA
CACAAACACACACATGCAGACACACAGAGTAAACACATCCTGACAGGGAC
ACACACACACACGCAGACACACACACAGTAAACACATCCCAACAGGGACG
CAGACACACACACATGCAGACACACAGAGACACACACAGTAAACACATCC
TGACAGGGACAGACATACACACACACACACACACACGCAGACACACAGAG
ACACACACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACA
GACACACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGG
ACAGACACAGACAGACATGCGCAGACACACAGACACACACAGAGAGACAC
ACACACACAGAGACACACACAGTAACACATCCCAACAGGGACAGACACAC
ACAGTAAACACATCCCAACAGGGACGCAGACACACACACATGCAGACACA
CAGAGACACACACAGTAAACACATCCCGACAGGGACAGACACAGACACAC
AGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACA
GACAGACATGCGCAGACACACAGACACACACACACACAGACACACACAGT
AACACATCCCAACAGGGACAGACACACATGCACGGAGAACACAGCTGGTG
GAACACACACACACACAGACACAAACACAGCGTAACACATCCCGACAGGG
ACAC
 3 a0004c0006t0003g0015
a0004c0007t0002g0014
a0029c0015t0001g0008
a0004c0006t0003g0015
a0004c0007t0002g0014
a0029c0015t0001g0008
 3 HG00140.hp2
HG00735.hp1
NA18964.hp1
HG00140.hp2
HG00735.hp1
NA18964.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1003): Show 
c.487+612_487+613insGTGTCCCTGTCGGGATGTGTTACGCTGTGT
TTGTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTG
TGTCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTG
TCTGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTT
TACTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGG
ATGTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCG
TCCCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGT
TACTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGT
CTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTG
TGTCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGG
GATGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGT
GTGTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTG
TGTGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGT
GTGTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTG
TGTGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGT
GTCTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTC
TGTGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCT
GTCCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTG
TCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGT
GTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(994): Show 
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACAAACACACACACAC
ACAGTAAATACATCCCGACAGGGACAGACACACACACACACACAGACACA
CACAGTAAATGCATCCCGACGGACAGACACACATACAGAGTAAACACATC
CCGATGGACAGACACAGACACACAGACACACACACAGGGTAAACACATCC
TGACGGACACACACACACACAGACACACACAGTAAACACATCCCAATGGA
CACAAACACACACATGCAGACACACAGAGTAAACACATCCTGACAGGGAC
ACACACACACACGCAGACACACACACAGTAAACACATCCCAACAGGGACG
CAGACACACACACATGCAGACACACAGAGACACACACAGTAAACACATCC
TGACAGGGACAGACATACACACACACACACACACGCAGACACACAGAGAC
ACACACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGA
CACACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGAC
AGACACAGACAGACATGCGCAGACACACAGACACACACAGAGAGACACAC
ACACACAGAGACACACACAGTAACACATCCCAACAGGGACAGACACACAC
AGTAAACACATCCCAACAGGGACGCAGATACACACACATGCAGACACACA
GAGACACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAG
ACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGA
CAGACATGCGCAGACACACAGACACACACACACACAGACACACACAGTAA
CACATCCCAACAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGA
ACACACACACACACAGACACAAACACAGCGTAACACATCCCGACAGGGAC
AC
 1 a0004c0006t0003g0013
a0004c0006t0003g0013
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1001): Show 
c.487+612_487+613insGTGTCCCTGTCGGGATGTGTTACGCTGTGT
TTGTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTG
TGTCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTG
TCTGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTT
TACTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGG
ATGTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTATCTGCG
TCCCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGT
TACTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGT
CTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTG
TGTCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGG
GATGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1374): Show 
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACTAAATA
CATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACA
CAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACACAC
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACACACAA
ACACACAGTAAATACATCCCGACAGGGACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATCCCGGCAGGAACACAAACACATACATACGC
AGACACACACACACACAAACACACACACACACAGTAAATACATCCCGACA
GGGACAGACACACACACACACACAGACACACACAGTAAATGCATCCCGAC
GGACAGACACACATACAGAGTAAACACATCCCGATGGACAGACACAGACA
CACAGACACACACACAGGGTAAACACATCCTGACGGACACACACACACAC
AGACACACACAGTAAACACATCCCAATGGACACAAACACACACATGCAGA
CACACAGAGTAAACACATCCTGACAGGGACACACACACACACGCAGACAC
ACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACATGCAGA
CACACAGAGACACACACAGTAAACACATCCTGACAGGGACAGACATACAC
ACACACACACACACACGCAGACACACAGAGACACACACACACAGTAAACA
CATCCCGACAGGGACAGACACAGACACACAGACACACACAGACACACACA
GACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACATGC
GCAGACACACAGACACACACAGAGAGACACACACACACAGAGACACACAC
AGTAACACATCCCAACAGGGACAGACACACACAGTAAACACATCCCAACA
GGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGTAAAC
ACATCCCGACAGGGACAGACACAGACACACAGACACACACAGACACACTC
AGTAAACACATCCCAACAGGGACAGACACAGACAGACATGCGCAGACACA
CAGACACACACACACACAGACACACACAGTAACACATCCCAACAGGGACA
GACACACATGCACGGAGAACACAGCTGGTGGAACACACACACACACAGAC
ACAAACACAGCGTAACACATCCCGACAGGGAC
 7 a0002c0002t0001g0068
a0002c0002t0001g0115
a0002c0002t0001g0116
others(4): Show 
a0002c0002t0001g0068
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
 7 NA18950.hp2
NA18956.hp2
NA18964.hp2
others(4): Show 
NA18950.hp2
NA18956.hp2
NA18964.hp2
NA18977.hp2
NA19002.hp2
NA19057.hp1
NA19081.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1381): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGT
GTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTAC
TGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTGTTTGT
GTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1504): Show 
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACTAAATA
CATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACA
CAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACACAC
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACACACAC
TAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATAC
ACACGCAGACACACACACACACACACACACACAAACACACAGTAAATACA
TCCCGACAGGGACACACACACAGAGACACACACAAACACAGTAAACACAT
CCCGGCAGGAACACAAACACATACATACGCAGACACACACACACACAAAC
ACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACA
CACAGACACACACAGTAAATGCATCCCGACGGACAGACACACATACAGAG
TAAACACATCCCGATGGACAGACACAGACACACAGACACACACACAGGGT
AAACACATCCTGACGGACACACACACACACAGACACACACAGTAAACACA
TCCCAATGGACACAAACACACACATGCAGACACACAGAGTAAACACATCC
TGACAGGGACACACACACACACGCAGACACACACACAGTAAACACATCCC
AACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGT
AAACACATCCTGACAGGGACAGACATACACACACACACACACACACGCAG
ACACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACAGACA
CAGACACACAGACACACACAGACACACACAGACACACTCAGTAAACACAT
CCCAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACAC
AGAGAGACACACACACACAGAGACACACACAGTAACACATCCCAACAGGG
ACAGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACA
TGCAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGACAGAC
ACAGACACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGG
GACAGACACAGACAGACATGCGCAGACACACAGACACACACACACACAGA
CACACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGAAC
ACAGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAACACAT
CCCGACAGGGAC
 1 a0026c0018t0002g0018
a0026c0018t0002g0018
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1511): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCCCTGTCGGGATGTATTTACTGTGTGTTT
GTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TGTGTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGT
GTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTAC
TGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTAT
GTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTG
TGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGT
GTGTGTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1500): Show 
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACTAAATA
CATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACA
CAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACACAC
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACACACAC
TAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATAC
ACACGCAGACACACACACACACACACACACACAAACACACAGTAAATACA
TCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGAACACAAACACATACATACGCAGACACACACACACAC
AAACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACA
CACACACAGACACACACAGTAAATGCATCCCGACGGACAGACACACATAC
AGAGTAAACACATCCCGATGGACAGACACAGACACACAGACACACACACA
GGGTAAACACATCCTGACGGACACACACACACACAGACACACACAGTAAA
CACATCCCAATGGACACAAACACACACATGCAGACACACAGAGTAAACAC
ATCCTGACAGGGACACACACACACACGCAGACACACACACAGTAAACACA
TCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACA
CAGTAAACACATCCTGACAGGGACAGACATACACACACACACACACACAC
GCAGACACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACA
GACACAGACACACAGACACACACAGACACACACAGACACACTCAGTAAAC
ACATCCCAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACAC
ACACAGAGAGACACACACACACAGAGACACACACAGTAACACATCCCAAC
AGGGACAGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACA
CACATGCAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGAC
AGACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACA
GACACAGACAGACATGCGCAGACACACAGACACACACACACACAGACACA
CACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGAACACAG
CTGGTGGAACACACACACACACAGACACAAACACAGCGTAACACATCCCG
ACAGGGAC
 1 a0008c0009t0001g0016
a0008c0009t0001g0016
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1507): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTGTTTAC
TGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGG
GATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTACTGTGTGT
GTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCTGCGCATGT
CTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTGTCTGTGTG
TGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTGTTTA
CTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGTGTGTGTAT
GTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTGTGTCTGCA
TGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGTGTGTGTCT
GCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTGTGTCTGCA
TGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGTCTGTGTGT
GTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTGTGTGTCTG
TGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGTCCGTCGGG
ATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTCCCTGTCGG
GATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTCTGCGTAT
GTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTC
TCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT
GTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCG
GGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTG
TGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGT
TTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGT
GTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1508): Show 
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACTAAATA
CATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACA
CAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACACAC
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACACACAC
TAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATAC
ACACGCAGACACACACACACACACACACACACAAACACACAGTAAATACA
TCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGAACACAAACACATACATACGCAGACACACACACACAC
AAACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACA
CACACACAGACACACACAGTAAATGCATCCCGACGGACAGACACACATAC
AGAGTAAACACATCCCGATGGACAGACACAGACACACAGACACACACACA
GGGTAAACACATCCTGACGGACACACACACACACAGACACACACAGTAAA
CACATCCCAATGGACACAAACACACACATGCAGACACACAGAGTAAACAC
ATCCTGACAGGGACACACACACACACGCAGACACACACACAGTAAACACA
TCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACA
CAGTAAACACATCCTGACAGGGACAGACATACACACACACACACACACAC
GCAGACACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACA
GACACAGACACACAGACACACACAGACACACACAGACACACTCAGTAAAC
ACATCCCAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACAC
ACACAGAGAGACACACACACACAGAGACACACACAGTAACACATCCCAAC
AGGGACAGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACA
CACATGCAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGAC
AGACACAGACACACAGACACACACAGACACACTCAGTAAACACATCCCAA
CAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACACACACA
CAGACACACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGA
GAACACAGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAAC
ACATCCCGACAGGGAC
 8 a0002c0037t0003g0133
a0004c0006t0001g0020
a0005c0010t0001g0024
others(5): Show 
a0002c0037t0003g0133
a0004c0006t0001g0020
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0012c0013t0001g0134
 8 HG00735.hp2
HG02080.hp2
HG02735.hp2
others(5): Show 
HG00735.hp2
HG02080.hp2
HG02735.hp2
NA18941.hp1
NA18942.hp2
NA18951.hp2
NA19057.hp2
NA19082.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1515): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGT
GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGT
GTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTC
TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGT
GTGTGTGTGTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGT
GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1502): Show 
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACTAAATA
CATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACA
CAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACACAC
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACACACTA
AATACATCCCGACAGGGACACACACACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACACACAAACACACAGTAAATACATCCCGA
CAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGAACACAAACACATACATACGCAGACACACACACACACAAACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACACA
CAGACACACACAGTAAATGCATCCCGACGGACAGACACACATACAGAGTA
AACACATCCCGATGGACAGACACAGACACACAGACACACACACAGGGTAA
ACACATCCTGACGGACACACACACACACAGACACACACAGTAAACACATC
CCAATGGACACAAACACACACATGCAGACACACAGAGTAAACACATCCTG
ACAGGGACACACACACACACGCAGACACACACACAGTAAACACATCCCAA
CAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGTAA
ACACATCCTGACAGGGACAGACATACACACACACACACACACACGCAGAC
ACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACAGACACA
GACACACAGACACACACAGACACACACAGACACACTCAGTAAACACATCC
CAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACACAG
AGAGACACACACACACAGAGACACACACAGTAACACATCCCAACAGGGAC
AGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACATG
CAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGACAGACAC
AGACACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGA
CAGACACAGACAGACATGCGCAGACACACACACACACACACACACAGACA
CACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGAACAC
AGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAACACATCC
CGACAGGGAC
 1 a0022c0033t0002g0140
a0022c0033t0002g0140
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1509): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTG
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTGTGTGTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG
TATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGT
GTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTG
TGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGT
GTGTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTAC
TGTGTTTGTGTGTGTCTCTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1500): Show 
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACTAAATA
CATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACA
CAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACACAC
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACACACTA
AATACATCCCGACAGGGACACACACACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACACACAAACACACAGTAAATACATCCCGA
CAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGAACACAAACACATACATACGCAGACACACACACACACAAACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACACA
CAGACACACACAGTAAATGCATCCCGACGGACAGACACACATACAGAGTA
AACACATCCCGATGGACAGACACAGACACACAGACACACACACAGGGTAA
ACACATCCTGACGGACACACACACACACAGACACACACAGTAAACACATC
CCAATGGACACAAACACACACATGCAGACACACAGAGTAAACACATCCTG
ACAGGGACACACACACACACGCAGACACACACACAGTAAACACATCCCAA
CAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGTAA
ACACATCCTGACAGGGACAGACATACACACACACACACACACACGCAGAC
ACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACAGACACA
GACACACAGACACACACAGACACACACAGACACACTCAGTAAACACATCC
CAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACACAG
AGAGACACACACACACAGAGACACACACAGTAACACATCCCAACAGGGAC
AGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACATG
CAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGACAGACAC
AGACACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGA
CAGACACAGACAGACATGCGCAGACACACACACACACACACACAGACACA
CACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGAACACAG
CTGGTGGAACACACACACACACAGACACAAACACAGCGTAACACATCCCG
ACAGGGAC
 1 a0013c0016t0002g0009
a0013c0016t0002g0009
 1 NA19078.hp2
NA19078.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1507): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTG
TGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACT
GAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGATGT
GTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTCCC
TGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTACT
GTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCTGC
GCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTGTC
TGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGATG
TGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGTGT
GTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTGTG
TCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGTGT
GTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTGTG
TCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGTCT
GTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTGTG
TGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGTCC
GTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTCCC
TGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTCT
GCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTG
TGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT
TTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTGTGTGTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGT
TTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGT
GTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1506): Show 
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACTAAATA
CATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACA
CAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACACAC
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACACACTA
AATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACACACACACACAAACACACAGTAAATACATC
CCGACAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACAC
ATCCCGGCAGGAACACAAACACATACATACGCAGACACACACACACACAA
ACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACA
CACACAGACACACACAGTAAATGCATCCCGACGGACAGACACACATACAG
AGTAAACACATCCCGATGGACAGACACAGACACACAGACACACACACAGG
GTAAACACATCCTGACGGACACACACACACACAGACACACACAGTAAACA
CATCCCAATGGACACAAACACACACATGCAGACACACAGAGTAAACACAT
CCTGACAGGGACACACACACACACGCAGACACACACACAGTAAACACATC
CCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACA
GTAAACACATCCTGACAGGGACAGACATACACACACACACACACACACGC
AGACACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACAGA
CACAGACACACAGACACACACAGACACACACAGACACACTCAGTAAACAC
ATCCCAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACAC
ACAGAGAGACACACACACACAGAGACACACACAGTAACACATCCCAACAG
GGACAGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACA
CATGCAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGACAG
ACACAGACACACAGACACACACAGACACACTCAGTAAACACATCCCAACA
GGGACAGACACAGACAGACATGCGCAGACACACAGACACACACACACACA
GACACACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGA
ACACAGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAACAC
ATCCCGACAGGGAC
 1 a0024c0032t0001g0108
a0024c0032t0001g0108
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1513): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGT
GTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGG
GATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGT
GTGTGTGTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1502): Show 
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACTAAATA
CATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACA
CAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACACAC
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACTAAATA
CATCCCGACAGGGACAGACACACACACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACACACAAACACACAGTAAATACATCCCGA
CAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGAACACAAACACATACATACGCAGACACACACACACACAAACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACACA
CAGACACACACAGTAAATGCATCCCGACGGACAGACACACATACAGAGTA
AACACATCCCGATGGACAGACACAGACACACAGACACACACACAGGGTAA
ACACATCCTGACGGACACACACACACACAGACACACACAGTAAACACATC
CCAATGGACACAAACACACACATGCAGACACACAGAGTAAACACATCCTG
ACAGGGACACACACACACACGCAGACACACACACAGTAAACACATCCCAA
CAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGTAA
ACACATCCTGACAGGGACAGACATACACACACACACACACACACGCAGAC
ACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACAGACACA
GACACACAGACACACACAGACACACACAGACACACTCAGTAAACACATCC
CAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACACAG
AGAGACACACACACACAGAGACACACACAGTAACACATCCCAACAGGGAC
AGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACATG
CAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGACAGACAC
AGACACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGA
CAGACACAGACAGACATGCGCAGACACACAGACACACACACACACAGACA
CACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGAACAC
AGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAACACATCC
CGACAGGGAC
 2 a0002c0036t0001g0071
a0027c0040t0002g0148
a0002c0036t0001g0071
a0027c0040t0002g0148
 2 HG01361.hp2
HG03130.hp2
HG01361.hp2
HG03130.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1509): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG
TATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGT
GTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTG
TGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGT
GTGTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTAC
TGTGTTTGTGTGTGTCTCTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACACA
others(1130): Show 
GACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACAT
CCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACAC
ACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACATAC
ATACGCAGACACACACACACACAAACACACACACACACAGTAAATACATC
CCGACAGGGACAGACACACACACACACACAGACACACACAGTAAATGCAT
CCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGACAGACA
CAGACACACAGACACACACACAGGGTAAACACATCCTGACGGACACACAC
ACACACAGACACACACAGTAAACACATCCCAATGGACACAAACACACACA
TGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACACACACGC
AGACACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACA
TGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGGGACAGAC
ATACACACACACACACACACACGCAGACACACAGAGACACACACACACAG
TAAACACATCCCGACAGGGACAGACACAGACACACAGACACACACAGACA
CACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAG
ACATGCGCAGACACACAGACACACACAGAGAGACACACACACACAGAGAC
ACACACAGTAACACATCCCAACAGGGACAGACACACACAGTAAACACATC
CCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACA
GTAAACACATCCCGACAGGGACAGACACAGACACACAGACACACACAGAC
ACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACATGCGCA
GACACACAGACACACACACACACAGACACACACAGTAACACATCCCAACA
GGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACACACACACAC
ACAGACACAAACACAGCGTAACACATCCCGACAGGGAC
 1 a0002c0034t0003g0073
a0002c0034t0003g0073
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1137): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(2394): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCA
GCAGGGACACAAACACATACACACGCAGACACACACACACACACAAACAC
ACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACA
CACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAA
ACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGACA
GGGACAGACACACACACACAGACACACACACAGAGACACACACAAACACA
GTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACAC
ACACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGA
CACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGAC
ACACATACACACGCAGACACACACACACACACACACAAACAGTAAATACA
TCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACA
GTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACA
CACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACATACACACGCAGACACACACACACAGTAAATACATC
CCGACAGGGACAGACACACACACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACAC
AAACACATACATACGCAGACACACACACACACACACACACTAAATACATC
CCGACAGGGACACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACACA
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAA
ACACATACACACGCAGACACACACACACACACACACACACTAAATACATC
CCGACAGGGACAGACACACACACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACACAAACACACAGTAAATACATCCCGACAGGGACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACAAACACACACACAC
ACAGTAAATACATCCCGACAGGGACAGACACACACACACACACAGACACA
CACAGTAAATGCATCCCGACGGACAGACACACATACAGAGTAAACACATC
CCGATGGACAGACACAGACACACAGACACACACACAGGGTAAACACATCC
TGACGGACACACACACACACAGACACACACAGTAAACACATCCCAATGGA
CACAAACACACACATGCAGACACACAGAGTAAACACATCCTGACAGGGAC
ACACACACACACGCAGACACACACACAGTAAACACATCCCAACAGGGACG
CAGACACACACACATGCAGACACACAGAGACACACACAGTAAACACATCC
TGACAGGGACAGACATACACACACACACACACACACGCAGACACACAGAG
ACACACACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACA
GACACACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGG
ACAGACACAGACAGACATGCGCAGACACACAGACACACACAGAGAGACAC
ACACACACAGAGACACACACAGTAACACATCCCAACAGGGACAGACACAC
ACAGTAAACACATCCCAACAGGGACGCAGACACACACACATGCAGACACA
CAGAGACACACACAGTAAACACATCCCGACAGGGACAGACACAGACACAC
AGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACA
GACAGACATGCGCAGACACACAGACACACACACACACAGACACACACAGT
AACACATCCCAACAGGGACAGACACACATGCACGGAGAACACAGCTGGTG
GAACACACACACACACAGACACAAACACAGCGTAACACATCCCGACAGGG
AC
 1 a0001c0003t0001g0072
a0001c0003t0001g0072
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(2401): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TGTGTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG
TATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGT
GTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTG
TGTGTGTCTGTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGT
GTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT
GTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTCTGC
GTGTGTATGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTG
TCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATT
TACTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTGTCCATGCTGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATT
TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT
GTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGT
GTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTG
TCTCTGTGTGTGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(1252): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCA
GCATGGACACAAACACATACACACGCAGACACACACACACACACACAAAC
AGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACACACAAACACACAGTAAATACATCCCGA
CAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGAACACAAACACATACATACGCAGACACACACACACACAAACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACACA
CAGACACACACAGTAAATGCATCCCGACGGACAGACACACATACAGAGTA
AACACATCCCGATGGACAGACACAGACACACAGACACACACACAGGGTAA
ACACATCCTGACGGACACACACACACACAGACACACACAGTAAACACATC
CCAATGGACACAAACACACACATGCAGACACACAGAGTAAACACATCCTG
ACAGGGACACACACACACACGCAGACACACACACAGTAAACACATCCCAA
CAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGTAA
ACACATCCTGACAGGGACAGACATACACACACACACACACACACGCAGAC
ACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACAGACACA
GACACACAGACACACACAGACACACACAGACACACTCAGTAAACACATCC
CAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACACAG
AGAGACACACACACACAGAGACACACACAGTAACACATCCCAACAGGGAC
AGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACATG
CAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGACAGACAC
AGACACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGA
CAGACACAGACAGACATGCGCAGACACACAGACACACACACACACAGACA
CACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGAACAC
AGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAACACATCC
CGACAGGGAC
 1 a0003c0004t0002g0099
a0003c0004t0002g0099
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1259): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGT
GTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(1252): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCA
GCATGGACACAAACACATACACACGCAGACACACACACACACACACAAAC
AGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACACACAAACACACAGTAAATACATCCCGA
CAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGAACACAAACACATACATACGCAGACACACACACACACAAACAC
ACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACACACA
CAGACACACACAGTAAATGCATCCCGACGGACAGACACACATACAGAGTA
AACACATCCCGATGGACAGACACAGACACACAGACACACACACAGGGTAA
ACACATCCTGACGGACACACACACACACAGACACACACAGTAAACACATC
CCAATGGACACAAACACACACATGCAGACACACAGAGTAAACACATCCTG
ACAGGGACACACACACACACGCAGACACACACACAGTAAACACATCCCAA
CAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGTAA
ACACATCCTGACAGGGACAGACATACACACACACACACACACACGCAGAC
ACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACAGACACA
GACACACAGACACACACAGACACACACAGACACACTCAGTAAACACATCC
CAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACACAG
AGAGACACACACACACAGAGACACACACAGTAACAGATCCCAACAGGGAC
AGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACATG
CAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGACAGACAC
AGACACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGA
CAGACACAGACAGACATGCGCAGACACACAGACACACACACACACAGACA
CACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGAACAC
AGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAACACATCC
CGACAGGGAC
 1 a0003c0004t0002g0087
a0003c0004t0002g0087
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1259): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATCTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGT
GTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(1892): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACAAAC
ACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACAAACACACAGTAAATACATCCCGACAGGGA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAG
GAACACAAACACATACATACGCAGACACACACACACACACACACACACTA
AATACATCCCGACAGGGACAGACACAGACAGACACACAGAGACACACACA
AATACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CAGACACACACACAGAGACACACACAAACACAGTAAACACATCGCGGCAG
GGACACAAACACATACACACGCAGACACACACACACACACACACACACAC
ACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGA
GACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGAC
ACAAACACATACACACGCAGACACACACACACACACACACAAACACACAG
TAAATACATCCCGACAGGGACAGACACACACACAGAGACACACACAAACA
CAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACAC
ACACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACA
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACAAACACACACACACACAGTA
AATACATCCCGACAGGGACAGACACACACACACACACAGACACACACAGT
AAATGCATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATG
GACAGACACAGACACACAGACACACACACAGGGTAAACACATCCTGACGG
ACACACACACACACAGACACACACAGTAAACACATCCCAATGGACACAGA
AACACACACATGCAGACACACAGAGTAAACACATCCTGACAGGGACACAC
ACACACACGCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGA
CACACACACATGCAGACACACAGAGACACACACAGTAAACACATCCTGAC
AGGGACAGACATACACACACACACACACACACGCAGACACACAGAGACAC
ACACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACA
CACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAG
ACACAGACAGACATGCGCAGACACACAGACACACACAGAGAGACACACAC
ACACAGAGACACACACAGTAACACATCCCGACAGGGACAGACACACACAG
TAAACACATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGA
GACACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGAC
ACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACA
GACATGCGCAGACACACAGACACACACACACACAGACACACACAGTAACA
CATCCCAACAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGAAC
ACACACACACACAGACACAAACACAGCGTAACACATCCCGACAGGGACAC
 1 a0016c0021t0003g0082
a0016c0021t0003g0082
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1899): Show 
c.487+612_487+613insGTGTCCCTGTCGGGATGTGTTACGCTGTGT
TTGTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTG
TGTCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTG
TCTGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTT
TACTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGG
ATGTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCG
TCCCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTCGGGATGTGT
TACTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGT
CTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTG
TGTCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGG
GATGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGT
GTGTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTG
TGTGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGT
GTGTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTG
TGTGTCTGCATGTGTGTGTTTCTGTGTCCATTGGGATGTGTTTACTGTGT
GTGTCTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTG
TCTGTGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGT
CTGTCCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTC
TGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGT
GTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT
GTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGA
TGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGC
GTGTGTATGTGTTTGTGTCCCTGCCGCGATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGT
GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
TGGGATGTGTTTACTGTATTTGTGTGTGTCTCTGTGTGTCTGTCTGTGTC
TGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTCTGC
GTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTT
GTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGT
GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTG
TCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGT
GTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTC
TCTGTGTGTGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(1254): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACACTAAATACATCCCGACAGGGACAGACACACACACACAGACACACACA
CAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACAC
ATACACACGCAGACACACACACACACACACACACACAAACACACAGTAAA
TACATCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGT
AAACACATCCCGGCAGGAACACAAACACATACATACGCAGACACACACAC
ACACAAACACACACACACACAGTAAATACATCCCGACAGGGACAGACACA
CACACACACACAGACACACACAGTAAATGCATCCCGACGGACAGACACAC
ATACAGAGTAAACACATCCCGATGGACAGACACAGACACACAGACACACA
CACAGGGTAAACACATCCTGACGGACACACACACACACAGACACACACAG
TAAACACATCCCAATGGACACAAACACACACATGCAGACACACAGAGTAA
ACACATCCTGACAGGGACACACACACACACGCAGACACACACACAGTAAA
CACATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACA
CACACAGTAAACACATCCTGACAGGGACAGACATACACACACACACACAC
ACACGCAGACACACAGAGACACACACACACAGTAAACACATCCCGACAGG
GACAGACACAGACACACACAGACACACACAGACACACTCAGTAAACACAT
CCCAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACAC
AGAGAGACACACACACACAGAGACACACACAGTAACACATCCCAACAGGG
ACAGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACA
TGCAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGACAGAC
ACAGACACACAGACACACACAGACACACTCAGTAAACACATCCCAACAGG
GACAGACACAGACAGACATGCGCAGACACACAGACACACACACACACAGA
CACACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGAAC
ACAGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAACACAT
CCCGACAGGGAC
 1 a0005c0010t0001g0017
a0005c0010t0001g0017
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1261): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTGTTTA
CTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGTGTGTGTAT
GTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTGTGTCTGCA
TGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGTGTGTGTCT
GCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTGTGTCTGCA
TGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGTCTGTGTGT
GTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTGTGTGTCTG
TGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGTCCGTCGGG
ATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTCCCTGTCGG
GATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTCTGCGTAT
GTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTC
TCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGT
GTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCG
GGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTG
TGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(1262): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACACTAAATACATCCCGACAGGGACAGACACACACACACAGACACACACA
CAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACAC
ATACACACGCAGACACACACACACACACACACACACAAACACACAGTAAA
TACATCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGT
AAACACATCCCGGCAGGAACACAAACACATACATACGCAGACACACACAC
ACACAAACACACACACACACAGTAAATACATCCCGACAGGGACAGACACA
CACACACACACAGACACACACAGTAAATGCATCCCGACGGACAGACACAC
ATACAGAGTAAACACATCCCGATGGACAGACACAGACACACAGACACACA
CACAGGGTAAACACATCCTGACGGACACACACACACACAGACACACACAG
TAAACACATCCCAATGGACACAAACACACACATGCAGACACACAGAGTAA
ACACATCCTGACAGGGACACACACACACACGCAGACACACACACAGTAAA
CACATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACA
CACACAGTAAACACATCCTGACAGGGACAGACATACACACACACACACAC
ACACGCAGACACACAGAGACACACACACACAGTAAACACATCCCGACAGG
GACAGACACAGACACACAGACACACACAGACACACACAGACACACTCAGT
AAACACATCCCAACAGGGACAGACACAGACAGACATGCGCAGACACACAG
ACACACACAGAGAGACACACACACACAGAGACACACACAGTAACACATCC
CAACAGGGACAGACACACACAGTAAACACATCCCAACAGGGACGCAGACA
CACACACATGCAGACACACAGAGACACACACAGTAAACACATCCCGACAG
GGACAGACACAGACACACAGACACACACAGACACACTCAGTAAACACATC
CCAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACACA
CACACAGACACACACAGTAACACATCCCAACAGGGACAGACACACATGCA
CGGAGAACACAGCTGGTGGAACACACACACACACAGACACAAACACAGCG
TAACACATCCCGACAGGGAC
 1 a0005c0010t0001g0019
a0005c0010t0001g0019
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1269): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGT
GTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGT
TTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(1256): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACACTAAATACATCCCGACAGGGACAGACACACACACACAGACACACACA
CAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACAC
ATACACACGCAGACACACACACACACACACACACACAAACACACAGTAAA
TACATCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGT
AAACACATCCCGGCAGGAACACAAACACATACATACGCAGACACACACAC
ACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACA
CACACAGACACACACAGTAAATGCATCCCGACGGACAGACACACATACAG
AGTAAACACATCCCGATGGACAGACACAGACACACAGACACACACACAGG
GTAAACACATCCTGACGGACACACACACACACAGACACACACAGTAAACA
CATCCCAATGGACACAAACACACACATGCAGACACACAGAGTAAACACAT
CCTGACAGGGACACACACACACACGCAGACACACACACAGTAAACACATC
CCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACA
GTAAACACATCCTGACAGGGACAGACATACACACACACACACACACACGC
AGACACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACAGA
CACAGACACACAGACACACACAGACACACACAGACACACTCAGTAAACAC
ATCCCAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACAC
ACAGAGAGACACACACACACAGAGACACACACAGTAACACATCCCAACAG
GGACAGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACA
CATGCAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGACAG
ACACAGACACACAGACACACACAGACACACTCAGTAAACACATCCCAACA
GGGACAGACACAGACAGACATGCGCAGACACACAGACACACACACACACA
GACACACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGA
ACACAGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAACAC
ATCCCGACAGGGAC
 1 a0001c0003t0003g0112
a0001c0003t0003g0112
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1263): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGT
ATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTG
TCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGT
GTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGC
CGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTG
TGTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(2030): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACTAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACA
GAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACAT
ACACACGCAGACACACACACACACACACACACAAACACACAGTAAATACC
TCCCGACAGGGACAGACACACACACACAGACACACACACAGAGACACACA
CAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACACACACACAAACACACAGTAAATACATCCCGA
CAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGAACACAAACACATACATACGCAGACACACACACACACACACAC
ACACTAAATACATCCCGACAGGGACAGACACAGACAGACACACAGAGACA
CACACAAATACAGTAAACACATCCCAGCAGGGACACAAACACATACACAC
GCAGACACACACACACACACACACACACAGTAAATACATCCCGACAGGGA
CAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAC
ACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACACA
GAGACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGG
ACACAAACACATACACACGCAGACACACACACACACAAACACACAGTAAA
TACATCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGT
AAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACAC
ACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACA
CAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACAC
ATACATACGCAGACACACACACACACAAACACACACACACACAGTAAATA
CATCCCGACAGGGACAGACACACACACACACACAGACACACACAGTAAAT
GCATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGACA
CAGACACACAGACACACACACAGGGTAAACACATCCTGACGGACACACAC
ACACACAGACACACACAGTAAACACATCCCAATGGACACAGAAACACACA
CATGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACACACAC
GCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACA
CATGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGGGACAG
ACATACACACACACACACACGCAGACACACAGAGACACACACACACAGTA
AACACATCCCGACAGGGACAGACACAGACACACAGACACACACAGACACA
CACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGAC
ATGCGCAGACACACAGACACACACAGAGAGACACACACACACAGAGACAC
ACACAGTAACACATCCCGACAGGGACAGACACACACAGTAAACACATCCC
AACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGT
AAACACATCCCGACAGGGACAGACACAGACACACAGACACACACAGACAC
ACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACATGCGCAGA
CACACAGACACACACACACACAGACACACACAGTAACACATCCCAACAGG
GACAGACACACATGCACGGAGAACACAGCTGGTGGAACACACACACACAC
AGACACAAACACAGCGTAACACATCCCGACAGGGACAC
 2 a0006c0011t0003g0143
a0006c0011t0003g0144
a0006c0011t0003g0143
a0006c0011t0003g0144
 2 HG03579.hp2
HG06807.hp1
HG03579.hp2
HG06807.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(2037): Show 
c.487+612_487+613insGTGTCCCTGTCGGGATGTGTTACGCTGTGT
TTGTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTG
TGTCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTG
TCTGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTT
TACTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGG
ATGTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCG
TCCCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTCGGGATGTGT
TACTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGT
CTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTG
TGTCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGG
GATGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGT
GTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTGTG
TCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGTGT
GTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTGTG
TCTGCATGTGTGTGTTTCTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGTCCGT
CGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTCCCTG
TCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTCTGC
GTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTT
GTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGG
ATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTCTGCGTGTGTATGT
GTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTG
TGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTA
TTTGTGTGTGTCTCTGTGTGTCTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTAGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTGTTTGTGT
TCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGT
GTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTAC
TGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCC
TGTCGGGAGGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTCT
GCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTG
TGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATG
TATTTAGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(2028): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACTAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACA
GAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACAT
ACACACGCAGACACACACACACACACACACACAAACACACAGTAAATACC
TCCCGACAGGGACAGACACACACACACAGACACACACACAGAGACACACA
CAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACACACACACAAACACACAGTAAATACATCCCGA
CAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGAACACAAACACATACATACGCAGACACACACACACACACACAC
ACTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACACA
CACAAACACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGC
AGACACACACACACACACACACACACAGTAAATACATCCCGACAGGGACA
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGA
GACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGAC
ACAAACACATACACACGCAGACACACACACACACAAACACACAGTAAATA
CATCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACA
GAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACAT
ACATACGCAGACACACACACACACAAACACACACACACACAGTAAATACA
TCCCGACAGGGACAGACACACACACACACACAGACACACACAGTAAATGC
ATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGACACA
GACACACAGACACACACACAGGGTAAACACATCCTGACGGACACACACAC
ACACAGACACACACAGTAAACACATCCCAATGGACACAGAAACACACACA
TGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACACACACGC
AGACACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACA
TGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGGGACAGAC
ATACACACACACACACACGCAGACACACAGAGACACACACACACAGTAAA
CACATCCCGACAGGGACAGACACAGACACACAGACACACACAGACACACA
CAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACAT
GCGCAGACACACAGACACACACAGAGAGACACACACACACAGAGACACAC
ACAGTAACACATCCCGACAGGGACAGACACACACAGTAAACACATCCCAA
CAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGTAA
ACACATCCCGACAGGGACAGACACAGACACACAGACACACACAGACACAC
TCAGTAAACACATCCCAACAGGGACAGACACAGACAGACATGCGCAGACA
CACAGACACACACACACACAGACACACACAGTAACACATCCCAACAGGGA
CAGACACACATGCACGGAGAACACAGCTGGTGGAACACACACACACACAG
ACACAAACACAGCGTAACACATCCCGACAGGGACAC
 1 a0001c0003t0003g0145
a0001c0003t0003g0145
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(2035): Show 
c.487+612_487+613insGTGTCCCTGTCGGGATGTGTTACGCTGTGT
TTGTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTG
TGTCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTG
TCTGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTT
TACTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGG
ATGTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCG
TCCCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTCGGGATGTGT
TACTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGT
CTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTG
TGTCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGG
GATGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGT
GTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTGTG
TCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGTGT
GTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTGTG
TCTGCATGTGTGTGTTTCTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGTCCGT
CGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTCCCTG
TCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTCTGC
GTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTT
GTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGG
ATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTCTGCGTGTGTATGT
GTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTG
TGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTGTTTGTGTTC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTG
TCGGGAGGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTCTGC
GTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTA
TTTAGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(2026): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACTAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACA
GAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACAT
ACACACGCAGACACACACACACACACACACACAAACACACAGTAAATACC
TCCCGACAGGGACAGACACACACACACAGACACACACACAGAGACACACA
CAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACACACACACAAACACACAGTAAATACATCCCGA
CAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC
CGGCAGGAACACAAACACATACATACGCAGACACACACACACACACACAC
TAAATACATCCCGACAGGGACAGACACAGACAGACACACAGAGACACACA
CAAATACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAG
ACACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGA
CACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGC
AGGGACACAAACACATACACACGCAGACACACACACACACACACACACAC
AAACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGA
CACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACAC
AAACACATACACACGCAGACACACACACACACAAACACACAGTAAATACA
TCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACATAC
ATACGCAGACACACACACACACAAACACACACACACACAGTAAATACATC
CCGACAGGGACAGACACACACACACACACAGACACACACAGTAAATGCAT
CCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGACACAGA
CACACAGACACACACACAGGGTAAACACATCCTGACGGACACACACACAC
ACAGACACACACAGTAAACACATCCCAATGGACACAGAAACACACACATG
CAGACACACAGAGTAAACACATCCTGACAGGGACACACACACACACGCAG
ACACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACACATG
CAGACACACAGAGACACACACAGTAAACACATCCTGACAGGGACAGACAT
ACACACACACACACACGCAGACACACAGAGACACACACACACAGTAAACA
CATCCCGACAGGGACAGACACAGACACACAGACACACACAGACACACACA
GACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACATGC
GCAGACACACAGACACACACAGAGAGACACACACACACAGAGACACACAC
AGTAACACATCCCGACAGGGACAGACACACACAGTAAACACATCCCAACA
GGGACGCAGACACACACACATGCAGACACACAGAGACACACACAGTAAAC
ACATCCCGACAGGGACAGACACAGACACACAGACACACACAGACACACTC
AGTAAACACATCCCAACAGGGACAGACACAGACAGACATGCGCAGACACA
CAGACACACACACACACAGACACACACAGTAACACATCCCAACAGGGACA
GACACACATGCACGGAGAACACAGCTGGTGGAACACACACACACACAGAC
ACAAACACAGCGTAACACATCCCGACAGGGACAC
 1 a0006c0011t0003g0142
a0006c0011t0003g0142
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(2033): Show 
c.487+612_487+613insGTGTCCCTGTCGGGATGTGTTACGCTGTGT
TTGTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTG
TGTCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTG
TCTGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTT
TACTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGG
ATGTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCG
TCCCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTCGGGATGTGT
TACTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGT
CTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTG
TGTCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGG
GATGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGT
GTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTGTG
TCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGTGT
GTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTGTG
TCTGCATGTGTGTGTTTCTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGTCCGT
CGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTCCCTG
TCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTCTGC
GTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTG
TGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTT
GTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGG
ATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTC
GGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTCTGCGTGTGTATGT
GTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTG
TGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTA
TTTGTGTGTGTCTCTGTGTGTCTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTAGTGTGTGTGTGTGTGTGTGTCTGCGTATGTATGTGTTTGTGTTCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTC
GGGAGGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTCTGCGT
GTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTG
TCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATT
TAGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(1260): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
ACTAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACA
GAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACAT
ACACACGCAGACACACACACACACACACACACACAAACACACAGTAAATA
CATCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCGGCAGGAACACAAACACATACATACGCAGACACACACACAC
ACAAACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACA
CACACACACAGACACACACAGTAAATGCATCCCGACGGACAGACACACAT
ACAGAGTAAACACATCCCGATGGACAGACACAGACACACAGACACACACA
CAGGGTAAACACATCCTGACGGACACACACACACACAGACACACACAGTA
AACACATCCCAATGGACACAAACACACACATGCAGACACACAGAGTAAAC
ACATCCTGACAGGGACACACACACACACGCAGACACACACACAGTAAACA
CATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACA
CACAGTAAACACATCCTGACAGGGACAGACATACACACACACACACACAC
ACGCAGACACACAGAGACACACACACACAGTAAACACATCCCGACAGGGA
CAGACACAGACACACAGACACACACAGACACACACAGACACACTCAGTAA
ACACATCCCAACAGGGACAGACACAGACAGACATGCGCAGACACACAGAC
ACACACAGAGAGACACACACACACAGAGACACACACAGTAACACATCCCA
ACAGGGACAGACACACACAGTAAACACATCCCAACAGGGACGCAGACACA
CACACATGCAGACACACAGAGACACACACAGTAAACACATCCCGACAGGG
ACAGACACAGACACACAGACACACACAGACACACTCAGTAAACACATCCC
AACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACACACA
CACAGACACACACAGTAACACATCCCAACAGGGACAGACACACATGCACG
GAGAACACAGCTGGTGGAACACACACACACACAGACACAAACACAGCGTA
ACACATCCCGACAGGGAC
 1 a0002c0005t0002g0121
a0002c0005t0002g0121
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.487+612_487+613ins
others(1267): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGT
GTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(2034): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
TAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATAC
ACACGCAGACACACACACACACACACACACAAACACACAGTAAATACCTC
CCGACAGGGACAGACACACACACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACACAAACACACAGTAAATACATCCCGACAGGGACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACACTAAA
TACATCCCGACAGGGACAGACACAGACAGACACACAGAGACACACACAAA
TACAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACAC
ACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCGCGGCAGGG
ACACAAACACATACACACGCAGACACACACACACACACACACACACAAAC
ACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACACA
CACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAAC
ACATACACACGCAGACACACACACACACACACACAAACACACAGTAAATA
CATCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACA
GAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACAT
ACATACGCAGACACACACACACACAAACACACACACACACAGTAAATACA
TCCCGACAGGGACAGACACACACACACACACAGACACACACAGTAAATGC
ATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGACAGA
CACAGACACACAGACACACACACAGGGTAAACACATCCTGACGGACACAC
ACACACACAGACACACACAGTAAACACATCCCAATGGACACAGAAACACA
CACATGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACACAC
ACGCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGACACACA
CACATGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGGGAC
AGACATACACACACACACACACACACGCAGACACACAGAGACACACACAC
ACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACACACA
GACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAG
ACAGACATGCGCAGACACACAGACACACACAGAGAGACACACACACACAG
AGACACACACAGTAACACATCCCGACAGGGACAGACACACACAGTAAACA
CATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACA
CACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACACAC
AGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACATG
CGCAGACACACAGACACACACACACACAGACACACACAGTAACACATCCC
AACAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACACACAC
ACACACAGACACAAACACAGCGTAACACATCCCGACAGGGAC
 1 a0001c0003t0001g0081
a0001c0003t0001g0081
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(2041): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTCGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTCTGTGTCCATTGGGATGTGTTTACTGTGTGT
GTCTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTC
TGTGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCT
GTCCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTG
TCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGT
GTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGT
GTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT
GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGTCT
GCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTG
TGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATG
TATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCCGCGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGAT
GTGTTTACTGTATTTGTGTGTGTCTCTGTGTGTCTGTCTGTGTCTGTCCC
TGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGT
ATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT
GTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGT
GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTC
TGTCCCTGTCGGGAGGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTC
GGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGT
TTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTG
TGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(2034): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC
TAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATAC
ACACGCAGACACACACACACACACACACACAAACACACAGTAAATACCTC
CCGACAGGGACAGACACACACACACAGACACACACACAGAGACACACACA
AACACAGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGAC
ACACACACACACACACACAAACACACAGTAAATACATCCCGACAGGGACA
GACACACACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGA
ACACAAACACATACATACGCAGACACACACACACACACACACACTAAATA
CATCCCGACAGGGACAGACACAGACAGACACACAGAGACACACACAAATA
CAGTAAACACATCCCAGCAGGGACACAAACACATACACACGCAGACACAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAGA
CACACACACAGAGACACACACAAACACAGTAAACACATCGCGGCAGGGAC
ACAAACACATACACACGCAGACACACACACACACACACACACACAAACAC
ACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACACACA
CAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACAC
ATACACACGCAGACACACACACACACACACACAAACACACAGTAAATACA
TCCCGACAGGGACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACATAC
ATACGCAGACACACACACACACAAACACACACACACACAGTAAATACATC
CCGACAGGGACAGACACACACACACACACAGACACACACAGTAAATGCAT
CCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGACAGACA
CAGACACACAGACACACACACAGGGTAAACACATCCTGACGGACACACAC
ACACACAGACACACACAGTAAACACATCCCAATGGACACAGAAACACACA
CATGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACACACAC
GCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACA
CATGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGGGACAG
ACATACACACACACACACACACACGCAGACACACAGAGACACACACACAC
AGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACACACAGA
CACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGAC
AGACATGCGCAGACACACAGACACACACAGAGAGACACACACACACAGAG
ACACACACAGTAACACATCCCGACAGGGACAGACACACACAGTAAACACA
TCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACA
CAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACACACAG
ACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACATGCG
CAGACACACAGACACACACACACACAGACACACACAGTAACACATCCCAA
CAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACACACACAC
ACACAGACACAAACACAGCGTAACACATCCCGACAGGGACAC
 2 a0014c0023t0001g0075
a0015c0022t0004g0103
a0014c0023t0001g0075
a0015c0022t0004g0103
 2 HG02486.hp1
HG02970.hp2
HG02486.hp1
HG02970.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(2041): Show 
c.487+612_487+613insGTGTCCCTGTCGGGATGTGTTACGCTGTGT
TTGTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTG
TGTCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTG
TCTGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTT
TACTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGG
ATGTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCG
TCCCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTCGGGATGTGT
TACTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGT
CTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTG
TGTCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGG
GATGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGT
GTGTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTG
TGTGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGT
GTGTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTG
TGTGTCTGCATGTGTGTGTTTCTGTGTCCATTGGGATGTGTTTACTGTGT
GTGTCTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTG
TCTGTGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGT
CTGTCCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTC
TGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGT
GTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACT
GTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGA
TGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGT
GTATGTGTTTGTGTCCCTGCCGCGATGTGTTTACTGTGTTTGTGTGTGTC
TCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT
GTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGG
ATGTGTTTACTGTATTTGTGTGTGTCTCTGTGTGTCTGTCTGTGTCTGTC
CCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTATGT
ATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGT
GTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGT
GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTC
TGTCCCTGTCGGGAGGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTC
GGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGT
TTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTG
TGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(1256): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACTA
AATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGAGA
CACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATACAC
ACGCAGACACACACACACACACACACACACAAACACACAGTAAATACATC
CCGACAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACAC
ATCCCGGCAGGAACACAAACACATACATACGCAGACACACACACACACAA
ACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACA
CACACAGACACACACAGTAAATGCATCCCGACGGACAGACACACATACAG
AGTAAACACATCCCGATGGACAGACACAGACACACAGACACACACACAGG
GTAAACACATCCTGACGGACACACACACACACAGACACACACAGTAAACA
CATCCCAATGGACACAAACACACACATGCAGACACACAGAGTAAACACAT
CCTGACAGGGACACACACACACACGCAGACACACACACAGTAAACACATC
CCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACACACA
GTAAACACATCCTGACAGGGACAGACATACACACACACACACACACACGC
AGACACACAGAGACACACACACACAGTAAACACATCCCGACAGGGACAGA
CACAGACACACAGACACACACAGACACACACAGACACACTCAGTAAACAC
ATCCCAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACAC
ACAGAGAGACACACACACACAGAGACACACACAGTAACACATCCCAACAG
GGACAGACACACACAGTAAACACATCCCAACAGGGACGCAGACACACACA
CATGCAGACACACAGAGACACACACAGTAAACACATCCCGACAGGGACAG
ACACAGACACACAGACACACACAGACACACTCAGTAAACACATCCCAACA
GGGACAGACACAGACAGACATGCGCAGACACACAGACACACACACACACA
GACACACACAGTAACACATCCCAACAGGGACAGACACACATGCACGGAGA
ACACAGCTGGTGGAACACACACACACACAGACACAAACACAGCGTAACAC
ATCCCGACAGGGAC
 2 a0002c0002t0001g0139
a0012c0013t0001g0146
a0002c0002t0001g0139
a0012c0013t0001g0146
 2 HG02258.hp2
HG03654.hp2
HG02258.hp2
HG03654.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1263): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGT
CCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTC
TGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(1890): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATGCTG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAG
TAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATAC
ACACGCAGACACACACACACACACACACACACACACTAAATACATCCCGA
CAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACAA
ACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGACA
CACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAA
ACACATACGCAGACACACACACACACAGTAAATACATCCCGACAGGGACA
GACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACA
CACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACAAAC
ACATACACACGCAGACACACACACACACACACAAACAGTAAATACATCCC
GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA
ACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACAC
ACACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACA
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA
ACACATACATACGCAGACACACACACACACAAACACACACACACACAGTA
AATACATCCCGACAGGGACAGACACACACACACACACAGACACACACAGT
AAATGCATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATG
GACAGACACAGACACACAGACACACACACAGGGTAAACACATCCTGACGG
ACACACACACACACAGACACACACAGTAAACACATCCCAATGGACACAAA
CACACACATGCAGACACACAGAGTAAACACATCCTGACAGGGACACACAC
ACACACGCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGACA
CACACACATGCAGACACACAGAGACACACACAGTAAACACATCCTGACAG
GGACAGACATACACACACACACACACACACGCAGACACACAGAGACACAC
ACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACA
CACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGAC
ACAGACAGACATGCGCAGACACACAGACACACACAGAGAGACACACACAC
ACAGAGACACACACAGTAACACATCCCAACAGGGACAGACACACACAGTA
AACACATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGA
CACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACAC
ACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGA
CATGCGCAGACACACAGACACACACACACACAGACACACACAGTAACACA
TCCCAACAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACAC
ACACACACACAGACACAAACACAGCGTAACACATCCCGACAGGGACAC
 1 a0008c0009t0001g0001
a0008c0009t0001g0001
 2 HG02109.hp1
HG02451.hp2
HG02109.hp1
HG02451.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(1897): Show 
c.487+612_487+613insGTGTCCCTGTCGGGATGTGTTACGCTGTGT
TTGTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTG
TGTCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTG
TCTGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTT
TACTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGG
ATGTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCG
TCCCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGT
TACTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGT
CTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTG
TGTCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGG
GATGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGT
GTGTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTG
TGTGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGT
GTGTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTG
TGTGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGT
GTCTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTC
TGTGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCT
GTCCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTG
TCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGT
GTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGT
GTGTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGT
GTGTCTGCGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTG
TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA
TTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT
GTGTGTCTGCGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGG
GATGTATTTACTGTGTGTTTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT
GTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG
TGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGT
GTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGT
ATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTC
TGTGTGTGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316301 G
G
 GACACAGA
others(2664): Show 
GACACAGACACACACACAGAGACACACACAAACACAGTAAACACATGCTG
GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAG
TAAATACATCCCGACAGGGACAGACACACACACACAGACACACACACAGA
GACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACATGC
ACACGCAGACACACACACACACACACACACACACACTAAATACATCCCGA
CAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAAC
ACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACAC
ACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGA
GACACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGAC
ACAAACACATACGCAGACACACACACACACAGTAAATACATCCCGACAGG
GACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGT
AAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACAC
ACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACA
CACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACAC
AAACACATACACACGCAGACACACACACACACACACAAACAGTAAATACA
TCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACA
GTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACAC
ACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACACA
CACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG
GCAGGGACACAAACATACACACGCAGACACACACACACACACACACACAC
ACAGTAAATACATCCCGACAGGGACAGACACACACACACAGACACACACA
CAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACAC
ATACACACGCAGACACACACACACACACAAACACACAGTAAATACATCCC
GACAGGGACAGACACACACACAGAGACACACACAAACACAGTAAACACAT
CCCGGCAGGAACACAAACACATACATACGCAGACACACACACACACACAC
ACACTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAGACA
CACACAAACACAGTAAACACATCCCAGCAGGGACACAAACACATACACAC
GCAGACACACACACACACACACACACACACACAGTAAATACATCCCGACA
GGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACAC
ATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACAC
ACACACACTAAATACATCCCGACAGGGACAGACACACACACACAGACACA
CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAA
ACACATACACACGCAGACACACACACACACACACACACAAACACACAGTA
AATACATCCCGACAGGGACAGACACACACACAGAGACACACACAAACACA
GTAAACACATCCCGGCAGGAACACAAACACATACATACGCAGACACACAC
ACACACAAACACACACACACACAGTAAATACATCCCGACAGGGACAGACA
CACACACACACACAGACACACACAGTAAATGCATCCCGACGGACAGACAC
ACATACAGAGTAAACACATCCCGATGGACAGACACAGACACACAGACACA
CACACAGGGTAAACACATCCTGACGGACACACACACACACAGACACACAC
AGTAAACACATCCCAATGGACACAAACACACACATGCAGACACACAGAGT
AAACACATCCTGACAGGGACACACACACACACGCAGACACACACACAGTA
AACACATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGA
CACACACAGTAAACACATCCTGACAGGGACAGACATACACACACACACAC
ACACACGCAGACACACAGAGACACACACACACAGTAAACACATCCCGACA
GGGACAGACACAGACACACAGACACACACAGACACACACAGACACACTCA
GTAAACACATCCCAACAGGGACAGACACAGACAGACATGCGCAGACACAC
AGACACACACAGAGAGACACACACACACAGAGACACACACAGTAACACAT
CCCAACAGGGACAGACACACACAGTAAACACATCCCAACAGGGACGCAGA
CACACACACATGCAGACACACAGAGACACACACAGTAAACACATCCCGAC
AGGGACAGACACAGACACACAGACACACACAGACACACTCAGTAAACACA
TCCCAACAGGGACAGACACAGACAGACATGCGCAGACACACAGACACACA
CACACACAGACACACACAGTAACACATCCCAACAGGGACAGACACACATG
CACGGAGAACACAGCTGGTGGAACACACACACACACAGACACAAACACAG
CGTAACACATCCCGACAGGGAC
 1 a0002c0005t0004g0076
a0002c0005t0004g0076
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.487+612_487+613ins
others(2671): Show 
c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT
GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG
TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC
TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA
CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT
GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC
CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA
CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT
GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG
TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT
GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG
TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT
GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG
TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT
CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG
TGTGTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT
CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC
CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT
CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT
GTTTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC
CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG
TGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGT
GTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTAC
TGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGA
TGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTAT
GTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTG
TGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGT
GTGTGTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTT
ACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTA
TTTACTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGT
GTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTG
TCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGT
GTGTGTGTGTGTGTGTCTGCGTGTGTATGTTTGTGTCCCTGCCGGGATGT
GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTC
TGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGT
CTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTG
TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA
CTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCAT
GCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG
TCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTGT
GTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTT
TGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGG
GATGTATTTACTGTGTGTGTGTGTGTCTGCGTATGTGTTTGTGTCCCTGC
CAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTG
TGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGT
GTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTG
TGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATG
TATTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGCATGTGT
TTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTG
TGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGT
GTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGT
GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316301
chrX:316315 T
T
 C
C
 1 a0002c0002t0001g0138
a0002c0002t0001g0138
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.487+599A>G
c.487+599A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316315
chrX:316321 G
G
 A
A
 1 a0018c0030t0003g0102
a0018c0030t0003g0102
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.487+593C>T
c.487+593C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316321
chrX:316340 G
G
 GAC
GAC
 5 a0001c0003t0001g0081
a0001c0003t0002g0084
a0001c0003t0002g0085
others(2): Show 
a0001c0003t0001g0081
a0001c0003t0002g0084
a0001c0003t0002g0085
a0002c0005t0001g0079
a0021c0027t0004g0083
 5 HG02109.hp2
HG02451.hp1
HG02615.hp1
others(2): Show 
HG02109.hp2
HG02451.hp1
HG02615.hp1
HG02717.hp1
HG06807.hp2
 intron_variant MODIFIER c.487+572_487+573dup
others(2): Show 
c.487+572_487+573dupGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316340
chrX:316340 G
G
 GACAC
GACAC
 4 a0001c0003t0001g0105
a0001c0003t0002g0101
a0001c0003t0003g0028
others(1): Show 
a0001c0003t0001g0105
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0024t0003g0106
 4 HG00741.hp2
HG02055.hp1
HG02647.hp2
others(1): Show 
HG00741.hp2
HG02055.hp1
HG02647.hp2
NA19043.hp2
 intron_variant MODIFIER c.487+570_487+573dup
others(4): Show 
c.487+570_487+573dupGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316340
chrX:316340 G
G
 GACACAC
GACACAC
 2 a0001c0001t0001g0045
a0023c0035t0004g0147
a0001c0001t0001g0045
a0023c0035t0004g0147
 2 HG00408.hp2
HG03195.hp1
HG00408.hp2
HG03195.hp1
 intron_variant MODIFIER c.487+568_487+573dup
others(6): Show 
c.487+568_487+573dupGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316340
chrX:316340 G
G
 GACACACA
others(1): Show 
GACACACAC
 5 a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0067
others(2): Show 
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0067
a0001c0003t0001g0046
a0025c0020t0002g0026
 5 HG01169.hp1
HG03491.hp2
NA18952.hp1
others(2): Show 
HG01169.hp1
HG03491.hp2
NA18952.hp1
NA18960.hp2
NA19077.hp2
 intron_variant MODIFIER c.487+566_487+573dup
others(8): Show 
c.487+566_487+573dupGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316340
chrX:316340 G
G
 GACACACA
others(3): Show 
GACACACACAC
 30 a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0002g0003
others(27): Show 
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0032
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0003g0107
a0004c0007t0002g0012
a0004c0007t0002g0025
a0009c0012t0002g0041
a0009c0012t0002g0042
a0019c0026t0001g0048
a0020c0025t0002g0051
 33 HG00423.hp1
HG00558.hp2
HG00642.hp1
others(30): Show 
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp2
HG01123.hp1
HG01175.hp2
HG01943.hp1
HG02155.hp2
HG02273.hp2
HG03831.hp1
HG03834.hp1
HG03942.hp2
HG04228.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp1
NA18953.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18993.hp1
NA19002.hp1
NA19011.hp2
NA19064.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA20805.hp1
 intron_variant MODIFIER c.487+564_487+573dup
others(10): Show 
c.487+564_487+573dupGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316340
chrX:316340 G
G
 GACACACA
others(5): Show 
GACACACACACAC
 5 a0001c0001t0001g0098
a0001c0001t0002g0058
a0001c0001t0002g0059
others(2): Show 
a0001c0001t0001g0098
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0003t0003g0070
 5 HG03490.hp2
HG03831.hp2
HG04115.hp2
others(2): Show 
HG03490.hp2
HG03831.hp2
HG04115.hp2
NA18999.hp1
NA18999.hp2
 intron_variant MODIFIER c.487+562_487+573dup
others(12): Show 
c.487+562_487+573dupGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316340
chrX:316340 G
G
 GACACACA
others(7): Show 
GACACACACACACAC
 12 a0001c0001t0001g0002
a0001c0001t0002g0030
a0001c0001t0002g0043
others(9): Show 
a0001c0001t0001g0002
a0001c0001t0002g0030
a0001c0001t0002g0043
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0003t0003g0061
a0010c0029t0005g0077
a0017c0028t0005g0078
a0028c0017t0002g0010
 13 HG01070.hp2
HG01109.hp2
HG02027.hp2
others(10): Show 
HG01070.hp2
HG01109.hp2
HG02027.hp2
HG03017.hp1
HG03195.hp2
NA18522.hp1
NA18956.hp1
NA18957.hp1
NA18973.hp2
NA18991.hp1
NA18994.hp1
NA19000.hp1
NA19089.hp1
 intron_variant MODIFIER c.487+560_487+573dup
others(14): Show 
c.487+560_487+573dupGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316340
chrX:316340 G
G
 GACACACA
others(10): Show 
GACACACACACACACACC
 1 a0001c0001t0002g0044
a0001c0001t0002g0044
 1 NA19078.hp1
NA19078.hp1
 intron_variant MODIFIER c.487+573_487+574ins
others(17): Show 
c.487+573_487+574insGGTGTGTGTGTGTGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316340
chrX:316340 GAC
GAC
 G
G
 52 a0001c0003t0001g0072
a0001c0003t0003g0112
a0002c0002t0001g0068
others(49): Show 
a0001c0003t0001g0072
a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0037t0003g0133
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0012c0013t0001g0134
a0018c0030t0003g0102
a0024c0032t0001g0108
a0026c0018t0002g0018
a0029c0015t0001g0008
 53 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(50): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG02040.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02155.hp1
HG02273.hp1
HG02451.hp2
HG02735.hp2
HG02970.hp1
HG03491.hp1
HG03834.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18977.hp2
NA18992.hp1
NA19002.hp2
NA19057.hp1
NA19057.hp2
NA19063.hp1
NA19077.hp1
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487+572_487+573del
others(2): Show 
c.487+572_487+573delGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316340
chrX:316340 GACAC
GACAC
 G
G
 7 a0001c0003t0003g0145
a0006c0011t0003g0142
a0006c0011t0003g0143
others(4): Show 
a0001c0003t0003g0145
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
 7 HG01243.hp2
HG02486.hp1
HG02615.hp2
others(4): Show 
HG01243.hp2
HG02486.hp1
HG02615.hp2
HG02965.hp1
HG02970.hp2
HG03579.hp2
HG06807.hp1
 intron_variant MODIFIER c.487+570_487+573del
others(4): Show 
c.487+570_487+573delGTGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316340
chrX:316366 G
G
 C
C
 1 a0001c0001t0002g0067
a0001c0001t0002g0067
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.487+548C>G
c.487+548C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316366
chrX:316373 C
C
 A
A
 4 a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
others(1): Show 
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0029c0015t0001g0008
 4 HG00140.hp2
HG00735.hp1
HG01346.hp2
others(1): Show 
HG00140.hp2
HG00735.hp1
HG01346.hp2
NA18964.hp1
 intron_variant MODIFIER c.487+541G>T
c.487+541G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316373
chrX:316492 A
A
 G
G
 2 a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0002g0101
a0001c0003t0003g0028
 2 HG00741.hp2
HG02055.hp1
HG00741.hp2
HG02055.hp1
 intron_variant MODIFIER c.487+422T>C
c.487+422T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316492
chrX:316534 G
G
 C
C
 58 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(55): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0061
a0001c0003t0003g0070
a0001c0003t0003g0107
a0004c0007t0002g0025
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0029t0005g0077
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0019c0026t0001g0048
a0020c0025t0002g0051
a0025c0020t0002g0026
a0028c0017t0002g0010
 62 HG00408.hp2
HG00423.hp1
HG00558.hp2
others(59): Show 
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00642.hp1
HG00733.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01123.hp1
HG01169.hp1
HG01243.hp2
HG01943.hp1
HG02027.hp2
HG02055.hp1
HG02155.hp2
HG02273.hp2
HG02486.hp1
HG02970.hp2
HG03017.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18522.hp1
NA18941.hp2
NA18949.hp1
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18973.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18993.hp1
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19011.hp2
NA19064.hp2
NA19077.hp2
NA19078.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA19089.hp1
NA20805.hp1
 intron_variant MODIFIER c.487+380C>G
c.487+380C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316534
chrX:316546 C
C
 CT
CT
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.487+367_487+368ins
others(1): Show 
c.487+367_487+368insA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316546
chrX:316547 C
C
 A
A
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.487+367G>T
c.487+367G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316547
chrX:316549 C
C
 G
G
 82 a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
others(79): Show 
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0112
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0018c0030t0003g0102
a0021c0027t0004g0083
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 85 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(82): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp1
HG03130.hp2
HG03491.hp1
HG03654.hp2
HG03834.hp2
HG06807.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487+365G>C
c.487+365G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316549
chrX:316550 C
C
 T
T
 2 a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0002g0101
a0001c0003t0003g0028
 2 HG00741.hp2
HG02055.hp1
HG00741.hp2
HG02055.hp1
 intron_variant MODIFIER c.487+364G>A
c.487+364G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316550
chrX:316551 C
C
 T
T
 87 a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
others(84): Show 
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0012
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0018c0030t0003g0102
a0021c0027t0004g0083
a0022c0033t0002g0140
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 90 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(87): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.487+363G>A
c.487+363G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316551
chrX:316603 G
G
 A
A
 2 a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0002g0101
a0001c0003t0003g0028
 2 HG00741.hp2
HG02055.hp1
HG00741.hp2
HG02055.hp1
 intron_variant MODIFIER c.487+311C>T
c.487+311C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316603
chrX:316638 C
C
 T
T
 25 a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0002g0003
others(22): Show 
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0003t0001g0031
a0001c0003t0001g0072
a0001c0003t0001g0105
a0001c0003t0003g0107
a0001c0024t0003g0106
a0004c0006t0003g0013
a0004c0007t0002g0014
a0008c0009t0001g0001
a0009c0012t0002g0041
a0009c0012t0002g0042
a0029c0015t0001g0008
 28 HG00423.hp1
HG00735.hp1
HG00741.hp1
others(25): Show 
HG00423.hp1
HG00735.hp1
HG00741.hp1
HG01123.hp1
HG01346.hp2
HG01943.hp1
HG02109.hp1
HG02273.hp2
HG02451.hp2
HG02647.hp2
NA18941.hp2
NA18949.hp1
NA18952.hp1
NA18956.hp1
NA18957.hp1
NA18960.hp2
NA18964.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18993.hp1
NA19002.hp1
NA19011.hp2
NA19043.hp2
NA19064.hp2
NA19080.hp1
NA19081.hp2
NA19085.hp2
 intron_variant MODIFIER c.487+276G>A
c.487+276G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316638
chrX:316722 C
C
 G
G
 2 a0001c0001t0002g0032
a0001c0003t0001g0031
a0001c0001t0002g0032
a0001c0003t0001g0031
 2 NA18983.hp1
NA18984.hp1
NA18983.hp1
NA18984.hp1
 intron_variant MODIFIER c.487+192G>C
c.487+192G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316722
chrX:316884 TG
TG
 T
T
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.487+29delC
c.487+29delC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 2/9 chrX 316884
chrX:317082 C
C
 T
T
 11 a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0145
others(8): Show 
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0005t0004g0076
a0002c0034t0003g0073
a0004c0007t0002g0012
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0010c0029t0005g0077
a0017c0028t0005g0078
 11 HG00741.hp2
HG01175.hp2
HG02055.hp1
others(8): Show 
HG00741.hp2
HG01175.hp2
HG02055.hp1
HG02615.hp2
HG02965.hp1
HG02970.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
 intron_variant MODIFIER c.350-31G>A
c.350-31G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317082
chrX:317086 TCTGCCCG
others(16): Show 
TCTGCCCGGGGCCCCCGTCCACAC
 T
T
 14 a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
others(11): Show 
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0145
a0002c0005t0004g0076
a0002c0034t0003g0073
a0004c0007t0002g0012
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0010c0029t0005g0077
a0017c0028t0005g0078
a0021c0027t0004g0083
 14 HG00741.hp2
HG01175.hp2
HG02055.hp1
others(11): Show 
HG00741.hp2
HG01175.hp2
HG02055.hp1
HG02109.hp2
HG02451.hp1
HG02615.hp1
HG02615.hp2
HG02965.hp1
HG02970.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
 intron_variant MODIFIER c.350-58_350-36delGT
others(21): Show 
c.350-58_350-36delGTGTGGACGGGGGCCCCGGGCAG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317086
chrX:317092 C
C
 CG
CG
 1 a0001c0001t0002g0030
a0001c0001t0002g0030
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.350-42dupC
c.350-42dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317092
chrX:317124 C
C
 G
G
 36 a0001c0003t0001g0031
a0001c0003t0003g0112
a0002c0002t0001g0068
others(33): Show 
a0001c0003t0001g0031
a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0037t0003g0133
a0012c0013t0001g0134
a0013c0016t0002g0009
a0022c0033t0002g0140
a0024c0032t0001g0108
 36 HG00099.hp1
HG00408.hp1
HG00423.hp2
others(33): Show 
HG00099.hp1
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00733.hp2
HG00735.hp2
HG01071.hp1
HG01123.hp2
HG01175.hp1
HG01346.hp1
HG01433.hp1
HG02040.hp1
HG02129.hp2
HG02155.hp1
HG02273.hp1
HG03491.hp1
HG03654.hp2
HG03834.hp2
NA18942.hp1
NA18950.hp2
NA18956.hp2
NA18961.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18983.hp1
NA18992.hp1
NA19002.hp2
NA19057.hp1
NA19063.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.350-73G>C
c.350-73G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317124
chrX:317125 T
T
 G
G
 36 a0001c0003t0001g0031
a0001c0003t0003g0112
a0002c0002t0001g0068
others(33): Show 
a0001c0003t0001g0031
a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0037t0003g0133
a0012c0013t0001g0134
a0013c0016t0002g0009
a0022c0033t0002g0140
a0024c0032t0001g0108
 36 HG00099.hp1
HG00408.hp1
HG00423.hp2
others(33): Show 
HG00099.hp1
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00733.hp2
HG00735.hp2
HG01071.hp1
HG01123.hp2
HG01175.hp1
HG01346.hp1
HG01433.hp1
HG02040.hp1
HG02129.hp2
HG02155.hp1
HG02273.hp1
HG03491.hp1
HG03654.hp2
HG03834.hp2
NA18942.hp1
NA18950.hp2
NA18956.hp2
NA18961.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18983.hp1
NA18992.hp1
NA19002.hp2
NA19057.hp1
NA19063.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.350-74A>C
c.350-74A>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317125
chrX:317180 C
C
 G
G
 9 a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0145
others(6): Show 
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0145
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0010c0029t0005g0077
a0010c0031t0005g0104
a0017c0028t0005g0078
 9 HG00741.hp2
HG02055.hp1
HG02615.hp2
others(6): Show 
HG00741.hp2
HG02055.hp1
HG02615.hp2
HG02965.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.350-129G>C
c.350-129G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317180
chrX:317194 T
T
 C
C
 88 a0001c0001t0001g0098
a0001c0003t0001g0031
a0001c0003t0001g0072
others(85): Show 
a0001c0001t0001g0098
a0001c0003t0001g0031
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0112
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0007t0002g0012
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0016
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0012c0013t0001g0146
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0022c0033t0002g0140
a0023c0035t0004g0147
a0024c0032t0001g0108
a0026c0018t0002g0018
a0027c0040t0002g0148
 90 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(87): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02155.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02486.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18983.hp1
NA18991.hp2
NA18992.hp1
NA18993.hp2
NA18999.hp2
NA19002.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.350-143A>G
c.350-143A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317194
chrX:317228 G
G
 A
A
 6 a0001c0003t0001g0105
a0001c0024t0003g0106
a0002c0002t0001g0074
others(3): Show 
a0001c0003t0001g0105
a0001c0024t0003g0106
a0002c0002t0001g0074
a0002c0005t0004g0076
a0002c0034t0003g0073
a0018c0030t0003g0102
 6 HG01169.hp2
HG02647.hp2
HG02970.hp1
others(3): Show 
HG01169.hp2
HG02647.hp2
HG02970.hp1
NA18906.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.350-177C>T
c.350-177C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317228
chrX:317231 A
A
 G
G
 73 a0001c0001t0001g0098
a0001c0003t0001g0031
a0001c0003t0001g0081
others(70): Show 
a0001c0001t0001g0098
a0001c0003t0001g0031
a0001c0003t0001g0081
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0112
a0001c0003t0003g0145
a0002c0002t0001g0068
a0002c0002t0001g0109
a0002c0002t0001g0110
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0002c0037t0003g0133
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0134
a0013c0016t0002g0009
a0014c0023t0001g0075
a0015c0022t0004g0103
a0017c0028t0005g0078
a0021c0027t0004g0083
a0022c0033t0002g0140
a0023c0035t0004g0147
a0024c0032t0001g0108
a0027c0040t0002g0148
 75 HG00099.hp1
HG00408.hp1
HG00423.hp2
others(72): Show 
HG00099.hp1
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp2
HG01071.hp1
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01175.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02273.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02965.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03491.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18942.hp1
NA18949.hp2
NA18950.hp2
NA18956.hp2
NA18957.hp2
NA18961.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18983.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18993.hp2
NA18999.hp2
NA19002.hp2
NA19011.hp1
NA19055.hp2
NA19057.hp1
NA19058.hp2
NA19063.hp1
NA19064.hp1
NA19070.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.350-180T>C
c.350-180T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317231
chrX:317243 G
G
 C
C
 1 a0002c0002t0001g0141
a0002c0002t0001g0141
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.350-192C>G
c.350-192C>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317243
chrX:317298 C
C
 CG
CG
 1 a0001c0001t0002g0030
a0001c0001t0002g0030
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.350-248dupC
c.350-248dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317298
chrX:317312 AACCCGGG
others(89): Show 
AACCCGGGAGCTGCGGGTGCTCAGGGGATTACTGAGGAACCACCGGCAGG
TTTGGGGAGTAGAGAGGCAAGAGGTCTGCGCGCTGTTCTGAGCAGTT
 A
A
 1 a0025c0020t0002g0026
a0025c0020t0002g0026
 1 HG01169.hp1
HG01169.hp1
 intron_variant MODIFIER c.350-357_350-262del
others(96): Show 
c.350-357_350-262delAACTGCTCAGAACAGCGCGCAGACCTCTTG
CCTCTCTACTCCCCAAACCTGCCGGTGGTTCCTCAGTAATCCCCTGAGCA
CCCGCAGCTCCCGGGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317312
chrX:317334 AG
AG
 A
A
 9 a0001c0003t0001g0105
a0001c0003t0003g0145
a0001c0024t0003g0106
others(6): Show 
a0001c0003t0001g0105
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0074
a0002c0005t0001g0079
a0002c0005t0004g0076
a0002c0034t0003g0073
a0018c0030t0003g0102
a0028c0017t0002g0010
 9 HG01169.hp2
HG02615.hp2
HG02647.hp2
others(6): Show 
HG01169.hp2
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02970.hp1
NA18906.hp2
NA19043.hp2
NA19089.hp1
NA20129.hp1
 intron_variant MODIFIER c.350-284delC
c.350-284delC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317334
chrX:317355 C
C
 G
G
 2 a0001c0003t0003g0028
a0004c0007t0002g0012
a0001c0003t0003g0028
a0004c0007t0002g0012
 2 HG00741.hp2
HG01175.hp2
HG00741.hp2
HG01175.hp2
 intron_variant MODIFIER c.350-304G>C
c.350-304G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317355
chrX:317360 G
G
 A
A
 2 a0001c0003t0003g0028
a0004c0007t0002g0012
a0001c0003t0003g0028
a0004c0007t0002g0012
 2 HG00741.hp2
HG01175.hp2
HG00741.hp2
HG01175.hp2
 intron_variant MODIFIER c.350-309C>T
c.350-309C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317360
chrX:317432 T
T
 A
A
 2 a0006c0011t0003g0142
a0016c0021t0003g0082
a0006c0011t0003g0142
a0016c0021t0003g0082
 2 HG01243.hp2
HG02965.hp1
HG01243.hp2
HG02965.hp1
 intron_variant MODIFIER c.350-381A>T
c.350-381A>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317432
chrX:317467 A
A
 G
G
 3 a0001c0003t0002g0084
a0001c0003t0002g0085
a0021c0027t0004g0083
a0001c0003t0002g0084
a0001c0003t0002g0085
a0021c0027t0004g0083
 3 HG02109.hp2
HG02451.hp1
HG02615.hp1
HG02109.hp2
HG02451.hp1
HG02615.hp1
 intron_variant MODIFIER c.350-416T>C
c.350-416T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317467
chrX:317531 G
G
 A
A
 1 a0001c0001t0002g0027
a0001c0001t0002g0027
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.350-480C>T
c.350-480C>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317531
chrX:317555 T
T
 TG
TG
 1 a0003c0004t0002g0080
a0003c0004t0002g0080
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.350-505dupC
c.350-505dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317555
chrX:317563 G
G
 GGGGGT
GGGGGT
 1 a0004c0007t0002g0025
a0004c0007t0002g0025
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.350-513_350-512ins
others(5): Show 
c.350-513_350-512insACCCC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317563
chrX:317564 G
G
 GGGGT
GGGGT
 21 a0001c0003t0001g0105
a0001c0024t0003g0106
a0002c0036t0001g0071
others(18): Show 
a0001c0003t0001g0105
a0001c0024t0003g0106
a0002c0036t0001g0071
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0016
a0010c0031t0005g0104
a0012c0013t0001g0146
a0018c0030t0003g0102
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 21 HG00099.hp2
HG00140.hp2
HG00280.hp2
others(18): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00639.hp1
HG00735.hp1
HG01346.hp2
HG01361.hp2
HG02080.hp2
HG02258.hp2
HG02647.hp2
HG02735.hp2
HG03130.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp2
NA18951.hp2
NA18964.hp1
NA19043.hp2
NA19057.hp2
NA19077.hp1
NA20129.hp1
 intron_variant MODIFIER c.350-514_350-513ins
others(4): Show 
c.350-514_350-513insACCC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317564
chrX:317564 G
G
 GGGGTGGG
others(3): Show 
GGGGTGGGGGT
 1 a0001c0003t0003g0028
a0001c0003t0003g0028
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.350-514_350-513ins
others(10): Show 
c.350-514_350-513insACCCCCACCC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317564
chrX:317564 G
G
 GGGGTGGG
others(16): Show 
GGGGTGGGGGTGGGGGTGGGGGGT
 1 a0001c0003t0001g0072
a0001c0003t0001g0072
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.350-514_350-513ins
others(23): Show 
c.350-514_350-513insACCCCCCACCCCCACCCCCACCC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317564
chrX:317567 GGT
GGT
 G
G
 1 a0003c0004t0002g0100
a0003c0004t0002g0100
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.350-518_350-517del
others(2): Show 
c.350-518_350-517delAC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317567
chrX:317569 T
T
 G
G
 24 a0001c0003t0001g0072
a0001c0003t0001g0105
a0001c0003t0003g0028
others(21): Show 
a0001c0003t0001g0072
a0001c0003t0001g0105
a0001c0003t0003g0028
a0001c0024t0003g0106
a0002c0036t0001g0071
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0016
a0010c0031t0005g0104
a0012c0013t0001g0146
a0018c0030t0003g0102
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 24 HG00099.hp2
HG00140.hp2
HG00280.hp2
others(21): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01346.hp2
HG01361.hp2
HG02080.hp2
HG02258.hp2
HG02647.hp2
HG02735.hp2
HG03130.hp2
HG03831.hp1
NA18906.hp1
NA18941.hp1
NA18942.hp2
NA18951.hp2
NA18964.hp1
NA19043.hp2
NA19057.hp2
NA19077.hp1
NA20129.hp1
 intron_variant MODIFIER c.350-518A>C
c.350-518A>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317569
chrX:317569 T
T
 TG
TG
 3 a0001c0003t0001g0081
a0008c0009t0001g0001
a0016c0021t0003g0082
a0001c0003t0001g0081
a0008c0009t0001g0001
a0016c0021t0003g0082
 4 HG01243.hp2
HG02109.hp1
HG02451.hp2
others(1): Show 
HG01243.hp2
HG02109.hp1
HG02451.hp2
HG06807.hp2
 intron_variant MODIFIER c.350-519dupC
c.350-519dupC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317569
chrX:317569 T
T
 TGGGGG
TGGGGG
 32 a0001c0001t0001g0098
a0001c0003t0002g0084
a0001c0003t0002g0085
others(29): Show 
a0001c0001t0001g0098
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0145
a0002c0002t0001g0074
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0004g0076
a0002c0034t0003g0073
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0007t0002g0012
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0010c0029t0005g0077
a0011c0014t0001g0007
a0017c0028t0005g0078
a0021c0027t0004g0083
a0023c0035t0004g0147
 34 HG00639.hp2
HG01167.hp1
HG01169.hp2
others(31): Show 
HG00639.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp2
HG01361.hp1
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp2
HG02300.hp1
HG02451.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02965.hp1
HG02970.hp1
HG03195.hp1
HG03195.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18949.hp2
NA18957.hp2
NA18992.hp2
NA18993.hp2
NA18999.hp2
NA19011.hp1
NA19055.hp2
NA19058.hp2
NA19062.hp1
NA19070.hp1
 intron_variant MODIFIER c.350-519_350-518ins
others(5): Show 
c.350-519_350-518insCCCCC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317569
chrX:317569 T
T
 TGGGGGGG
others(6): Show 
TGGGGGGGTGGGGG
 1 a0015c0022t0004g0103
a0015c0022t0004g0103
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.350-519_350-518ins
others(13): Show 
c.350-519_350-518insCCCCCACCCCCCC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317569
chrX:317569 T
T
 TGGGGGGT
others(5): Show 
TGGGGGGTGGGGG
 1 a0014c0023t0001g0075
a0014c0023t0001g0075
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.350-519_350-518ins
others(12): Show 
c.350-519_350-518insCCCCCACCCCCC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317569
chrX:317643 C
C
 A
A
 1 a0006c0011t0003g0144
a0006c0011t0003g0144
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.350-592G>T
c.350-592G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317643
chrX:317670 C
C
 T
T
 1 a0001c0003t0002g0101
a0001c0003t0002g0101
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.350-619G>A
c.350-619G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317670
chrX:317687 G
G
 GTCCACCC
others(3): Show 
GTCCACCCAAC
 2 a0002c0002t0001g0074
a0002c0034t0003g0073
a0002c0002t0001g0074
a0002c0034t0003g0073
 2 HG01169.hp2
HG02970.hp1
HG01169.hp2
HG02970.hp1
 intron_variant MODIFIER c.350-637_350-636ins
others(10): Show 
c.350-637_350-636insGTTGGGTGGA
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317687
chrX:317687 GCCCACCC
others(3): Show 
GCCCACCCAAC
 G
G
 2 a0006c0011t0003g0143
a0006c0011t0003g0144
a0006c0011t0003g0143
a0006c0011t0003g0144
 2 HG03579.hp2
HG06807.hp1
HG03579.hp2
HG06807.hp1
 intron_variant MODIFIER c.350-646_350-637del
others(10): Show 
c.350-646_350-637delGTTGGGTGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317687
chrX:317688 C
C
 T
T
 4 a0001c0003t0001g0072
a0001c0003t0002g0101
a0002c0005t0001g0079
others(1): Show 
a0001c0003t0001g0072
a0001c0003t0002g0101
a0002c0005t0001g0079
a0002c0005t0004g0076
 4 HG00741.hp1
HG02055.hp1
HG02717.hp1
others(1): Show 
HG00741.hp1
HG02055.hp1
HG02717.hp1
NA18906.hp2
 intron_variant MODIFIER c.350-637G>A
c.350-637G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317688
chrX:317695 A
A
 AACCCC
AACCCC
 2 a0002c0005t0004g0076
a0012c0013t0001g0146
a0002c0005t0004g0076
a0012c0013t0001g0146
 2 HG02258.hp2
NA18906.hp2
HG02258.hp2
NA18906.hp2
 intron_variant MODIFIER c.350-649_350-645dup
others(5): Show 
c.350-649_350-645dupGGGGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317695
chrX:317695 A
A
 AACCCCAC
others(8): Show 
AACCCCACCCAACCCC
 1 a0023c0035t0004g0147
a0023c0035t0004g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.350-645_350-644ins
others(15): Show 
c.350-645_350-644insGGGGTTGGGTGGGGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317695
chrX:317695 A
A
 AACCCCAC
others(3): Show 
AACCCCACCCC
 2 a0014c0023t0001g0075
a0015c0022t0004g0103
a0014c0023t0001g0075
a0015c0022t0004g0103
 2 HG02486.hp1
HG02970.hp2
HG02486.hp1
HG02970.hp2
 intron_variant MODIFIER c.350-654_350-645dup
others(10): Show 
c.350-654_350-645dupGGGGTGGGGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317695
chrX:317695 A
A
 C
C
 3 a0001c0003t0003g0145
a0002c0002t0001g0074
a0002c0034t0003g0073
a0001c0003t0003g0145
a0002c0002t0001g0074
a0002c0034t0003g0073
 3 HG01169.hp2
HG02615.hp2
HG02970.hp1
HG01169.hp2
HG02615.hp2
HG02970.hp1
 intron_variant MODIFIER c.350-644T>G
c.350-644T>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317695
chrX:317695 AACCCC
AACCCC
 A
A
 45 a0001c0001t0001g0098
a0001c0003t0001g0081
a0001c0003t0001g0105
others(42): Show 
a0001c0001t0001g0098
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0003g0028
a0001c0024t0003g0106
a0002c0005t0001g0079
a0002c0005t0002g0006
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0031t0005g0104
a0011c0014t0001g0007
a0016c0021t0003g0082
a0021c0027t0004g0083
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 48 HG00099.hp2
HG00140.hp2
HG00280.hp2
others(45): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00741.hp2
HG01167.hp1
HG01243.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG03831.hp1
HG06807.hp2
NA18906.hp1
NA18942.hp2
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA18964.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18999.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
 intron_variant MODIFIER c.350-649_350-645del
others(5): Show 
c.350-649_350-645delGGGGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317695
chrX:317695 AACCCCAC
others(3): Show 
AACCCCACCCC
 A
A
 36 a0001c0001t0002g0069
a0001c0003t0002g0101
a0001c0003t0003g0070
others(33): Show 
a0001c0001t0002g0069
a0001c0003t0002g0101
a0001c0003t0003g0070
a0001c0003t0003g0112
a0002c0002t0001g0068
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0119
a0002c0002t0001g0120
a0002c0002t0001g0122
a0002c0002t0001g0124
a0002c0002t0001g0126
a0002c0002t0001g0127
a0002c0002t0001g0128
a0002c0002t0001g0129
a0002c0002t0001g0131
a0002c0002t0001g0132
a0002c0002t0001g0135
a0002c0002t0001g0136
a0002c0002t0001g0137
a0002c0002t0001g0138
a0002c0002t0001g0139
a0002c0002t0001g0141
a0002c0002t0002g0125
a0002c0005t0002g0121
a0002c0005t0002g0123
a0002c0005t0002g0130
a0002c0036t0001g0071
a0002c0037t0003g0133
a0012c0013t0001g0134
a0013c0016t0002g0009
a0022c0033t0002g0140
 36 HG00099.hp1
HG00408.hp1
HG00423.hp2
others(33): Show 
HG00099.hp1
HG00408.hp1
HG00423.hp2
HG00558.hp1
HG00733.hp2
HG00735.hp2
HG01123.hp2
HG01175.hp1
HG01346.hp1
HG02040.hp1
HG02055.hp1
HG02129.hp2
HG02155.hp1
HG02273.hp1
HG03130.hp2
HG03491.hp1
HG03654.hp2
HG03831.hp2
NA18942.hp1
NA18950.hp1
NA18950.hp2
NA18956.hp2
NA18961.hp1
NA18964.hp2
NA18967.hp1
NA18973.hp1
NA18977.hp2
NA18992.hp1
NA19002.hp2
NA19057.hp1
NA19063.hp1
NA19078.hp2
NA19081.hp1
NA19082.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.350-654_350-645del
others(10): Show 
c.350-654_350-645delGGGGTGGGGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317695
chrX:317696 A
A
 ACCCCACC
others(4): Show 
ACCCCACCCCAC
 1 a0001c0003t0001g0072
a0001c0003t0001g0072
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.350-656_350-646dup
others(11): Show 
c.350-656_350-646dupGTGGGGTGGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317696
chrX:317706 A
A
 AC
AC
 1 a0001c0001t0002g0030
a0001c0001t0002g0030
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.350-656dupG
c.350-656dupG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317706
chrX:317706 ACCCCAC
ACCCCAC
 A
A
 1 a0007c0008t0001g0011
a0007c0008t0001g0011
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.350-661_350-656del
others(6): Show 
c.350-661_350-656delGTGGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317706
chrX:317711 A
A
 AC
AC
 2 a0001c0001t0002g0029
a0028c0017t0002g0010
a0001c0001t0002g0029
a0028c0017t0002g0010
 2 NA19011.hp2
NA19089.hp1
NA19011.hp2
NA19089.hp1
 intron_variant MODIFIER c.350-661dupG
c.350-661dupG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317711
chrX:317712 CCCCACCC
others(2): Show 
CCCCACCCCA
 C
C
 1 a0002c0002t0001g0110
a0002c0002t0001g0110
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.350-670_350-662del
others(9): Show 
c.350-670_350-662delTGGGGTGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317712
chrX:317715 C
C
 A
A
 1 a0001c0003t0002g0101
a0001c0003t0002g0101
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.350-664G>T
c.350-664G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317715
chrX:317721 AC
AC
 A
A
 2 a0002c0002t0001g0109
a0024c0032t0001g0108
a0002c0002t0001g0109
a0024c0032t0001g0108
 2 HG01071.hp1
HG03834.hp2
HG01071.hp1
HG03834.hp2
 intron_variant MODIFIER c.350-671delG
c.350-671delG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317721
chrX:317724 C
C
 G
G
 2 a0002c0002t0001g0109
a0024c0032t0001g0108
a0002c0002t0001g0109
a0024c0032t0001g0108
 2 HG01071.hp1
HG03834.hp2
HG01071.hp1
HG03834.hp2
 intron_variant MODIFIER c.350-673G>C
c.350-673G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317724
chrX:317725 C
C
 CACCCCAC
others(2): Show 
CACCCCACGG
 1 a0001c0003t0003g0107
a0001c0003t0003g0107
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.350-683_350-675dup
others(9): Show 
c.350-683_350-675dupCCGTGGGGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317725
chrX:317725 C
C
 G
G
 2 a0002c0002t0001g0109
a0024c0032t0001g0108
a0002c0002t0001g0109
a0024c0032t0001g0108
 2 HG01071.hp1
HG03834.hp2
HG01071.hp1
HG03834.hp2
 intron_variant MODIFIER c.350-674G>C
c.350-674G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317725
chrX:317725 CACCCCAC
others(2): Show 
CACCCCACGG
 C
C
 1 a0018c0030t0003g0102
a0018c0030t0003g0102
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.350-683_350-675del
others(9): Show 
c.350-683_350-675delCCGTGGGGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317725
chrX:317815 C
C
 T
T
 1 a0002c0036t0001g0071
a0002c0036t0001g0071
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.349+624G>A
c.349+624G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317815
chrX:317841 A
A
 G
G
 63 a0001c0001t0001g0098
a0001c0003t0001g0072
a0001c0003t0001g0081
others(60): Show 
a0001c0001t0001g0098
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0074
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0021c0027t0004g0083
a0023c0035t0004g0147
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 66 HG00099.hp2
HG00140.hp2
HG00280.hp2
others(63): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp2
HG01243.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp2
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA18964.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18999.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA20129.hp1
 intron_variant MODIFIER c.349+598T>C
c.349+598T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317841
chrX:317846 T
T
 C
C
 63 a0001c0001t0001g0098
a0001c0003t0001g0072
a0001c0003t0001g0081
others(60): Show 
a0001c0001t0001g0098
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0001g0105
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0145
a0001c0024t0003g0106
a0002c0002t0001g0074
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0142
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0010c0029t0005g0077
a0010c0031t0005g0104
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0021c0027t0004g0083
a0023c0035t0004g0147
a0026c0018t0002g0018
a0027c0040t0002g0148
a0029c0015t0001g0008
 66 HG00099.hp2
HG00140.hp2
HG00280.hp2
others(63): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01167.hp1
HG01169.hp2
HG01175.hp2
HG01243.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01993.hp1
HG01993.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02258.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03579.hp2
HG03831.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp2
NA18949.hp2
NA18951.hp2
NA18957.hp2
NA18964.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp2
NA18999.hp2
NA19011.hp1
NA19043.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19070.hp1
NA19077.hp1
NA20129.hp1
 intron_variant MODIFIER c.349+593A>G
c.349+593A>G
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317846
chrX:317897 C
C
 G
G
 3 a0001c0003t0001g0105
a0001c0024t0003g0106
a0010c0031t0005g0104
a0001c0003t0001g0105
a0001c0024t0003g0106
a0010c0031t0005g0104
 3 HG02647.hp2
NA18906.hp1
NA19043.hp2
HG02647.hp2
NA18906.hp1
NA19043.hp2
 intron_variant MODIFIER c.349+542G>C
c.349+542G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 317897
chrX:318006 G
G
 GC
GC
 1 a0015c0022t0004g0103
a0015c0022t0004g0103
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.349+432dupG
c.349+432dupG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 318006
chrX:318010 TG
TG
 T
T
 1 a0007c0008t0001g0011
a0007c0008t0001g0011
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.349+428delC
c.349+428delC
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 318010
chrX:318028 GACCCTCT
others(7): Show 
GACCCTCTCCTTAGA
 G
G
 1 a0001c0001t0001g0002
a0001c0001t0001g0002
 2 HG01070.hp2
HG01109.hp2
HG01070.hp2
HG01109.hp2
 intron_variant MODIFIER c.349+397_349+410del
others(14): Show 
c.349+397_349+410delTCTAAGGAGAGGGT
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 318028
chrX:318098 G
G
 GC
GC
 1 a0001c0003t0003g0028
a0001c0003t0003g0028
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.349+340dupG
c.349+340dupG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 318098
chrX:318190 A
A
 G
G
 108 a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
others(105): Show 
a0001c0001t0001g0002
a0001c0001t0001g0036
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0098
a0001c0001t0002g0003
a0001c0001t0002g0004
a0001c0001t0002g0027
a0001c0001t0002g0029
a0001c0001t0002g0030
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0035
a0001c0001t0002g0037
a0001c0001t0002g0038
a0001c0001t0002g0040
a0001c0001t0002g0043
a0001c0001t0002g0044
a0001c0001t0002g0047
a0001c0001t0002g0050
a0001c0001t0002g0052
a0001c0001t0002g0054
a0001c0001t0002g0055
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0058
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0064
a0001c0001t0002g0065
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0003t0001g0005
a0001c0003t0001g0031
a0001c0003t0001g0046
a0001c0003t0001g0049
a0001c0003t0001g0053
a0001c0003t0001g0072
a0001c0003t0001g0081
a0001c0003t0002g0084
a0001c0003t0002g0085
a0001c0003t0002g0101
a0001c0003t0003g0028
a0001c0003t0003g0061
a0001c0003t0003g0070
a0001c0003t0003g0145
a0002c0002t0001g0068
a0002c0002t0001g0074
a0002c0005t0001g0079
a0002c0005t0002g0006
a0002c0005t0004g0076
a0002c0034t0003g0073
a0002c0036t0001g0071
a0003c0004t0001g0086
a0003c0004t0001g0089
a0003c0004t0001g0091
a0003c0004t0001g0092
a0003c0004t0002g0080
a0003c0004t0002g0087
a0003c0004t0002g0088
a0003c0004t0002g0090
a0003c0004t0002g0093
a0003c0004t0002g0095
a0003c0004t0002g0096
a0003c0004t0002g0099
a0003c0004t0002g0100
a0003c0038t0001g0097
a0003c0039t0002g0094
a0004c0006t0001g0020
a0004c0006t0003g0013
a0004c0006t0003g0015
a0004c0007t0002g0012
a0004c0007t0002g0014
a0004c0007t0002g0025
a0005c0010t0001g0017
a0005c0010t0001g0019
a0005c0010t0001g0024
a0005c0019t0001g0022
a0006c0011t0003g0143
a0006c0011t0003g0144
a0007c0008t0001g0011
a0007c0008t0001g0021
a0007c0008t0001g0023
a0008c0009t0001g0001
a0008c0009t0001g0016
a0009c0012t0002g0041
a0009c0012t0002g0042
a0010c0029t0005g0077
a0011c0014t0001g0007
a0012c0013t0001g0146
a0014c0023t0001g0075
a0015c0022t0004g0103
a0016c0021t0003g0082
a0017c0028t0005g0078
a0018c0030t0003g0102
a0019c0026t0001g0048
a0020c0025t0002g0051
a0021c0027t0004g0083
a0023c0035t0004g0147
a0025c0020t0002g0026
a0026c0018t0002g0018
a0027c0040t0002g0148
a0028c0017t0002g0010
a0029c0015t0001g0008
 115 HG00099.hp2
HG00140.hp2
HG00280.hp2
others(112): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01243.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01943.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03491.hp2
HG03579.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18960.hp2
NA18964.hp1
NA18973.hp2
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19002.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp2
NA19062.hp1
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA19089.hp1
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.349+249T>C
c.349+249T>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 318190
chrX:318218 G
G
 GCCCCTGA
others(77): Show 
GCCCCTGAATCTCCACCTATGAAATCCTTCCTGCAGAGCCCCGCCCTTGC
GCCTCCACCTATGAGATTCTCCCCACAGAACCCCA
 3 a0001c0003t0003g0145
a0006c0011t0003g0143
a0006c0011t0003g0144
a0001c0003t0003g0145
a0006c0011t0003g0143
a0006c0011t0003g0144
 3 HG02615.hp2
HG03579.hp2
HG06807.hp1
HG02615.hp2
HG03579.hp2
HG06807.hp1
 intron_variant MODIFIER c.349+220_349+221ins
others(84): Show 
c.349+220_349+221insTGGGGTTCTGTGGGGAGAATCTCATAGGTG
GAGGCGCAAGGGCGGGGCTCTGCAGGAAGGATTTCATAGGTGGAGATTCA
GGGG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 318218
chrX:318344 GC
GC
 G
G
 1 a0028c0017t0002g0010
a0028c0017t0002g0010
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.349+94delG
c.349+94delG
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 318344
chrX:318368 C
C
 T
T
 1 a0001c0003t0003g0028
a0001c0003t0003g0028
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.349+71G>A
c.349+71G>A
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 318368
chrX:318391 C
C
 G
G
 1 a0001c0001t0002g0027
a0001c0001t0002g0027
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.349+48G>C
c.349+48G>C
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 318391
chrX:318426 C
C
 A
A
 2 a0012c0013t0001g0146
a0023c0035t0004g0147
a0012c0013t0001g0146
a0023c0035t0004g0147
 2 HG02258.hp2
HG03195.hp1
HG02258.hp2
HG03195.hp1
 intron_variant MODIFIER c.349+13G>T
c.349+13G>T
GTPBP6 ENSG00000178605.14 transcript ENST00000326153.10 protein_coding 1/9 chrX 318426

  • 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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